Abstracts - Erdheim-Chester Disease Global Alliance

Transcription

ECD Literature Search (found with www.PubMed.gov)
This list is an attempt at capturing abstracts for published papers regarding Erdheim-Chester Disease. It is meant for awareness purposes only. It is updated
periodically. The last update date appears at the bottom of each page. (Where no PMID is noted, the article was not found on the www.pubmed.gov website.)
Publ
Date
2015
Pg 1 of 139
Publication
Title
Author(s)
Author Contact
Editted Abstract
Case Rep
Pathol.
A Rare Case of
Erdheim-Chester
Disease and
Langerhans Cell
Histiocytosis
Overlap Syndrome.
Nabi S1, Arshad
A2, Jain T1, Virk
F1, Gulati R3,
Awdish R4.
1Department of Internal
Medicine, Henry Ford
Health System, 2799 W.
Grand Boulevard,
Detroit, MI 48202, USA.
Medicine, Hamad
Medical Corporation,
Weill Cornell University,
Doha, Qatar.
3Department of
Pathology, Henry Ford
Health System, 2799 W.
Grand Boulevard,
Detroit, MI 48202, USA.
4Department of
Pulmonary and Critical
Care Medicine, Henry
Ford Health System,
2799 W. Grand
Boulevard, Detroit, MI
48202, USA.
A 48-year-old woman with a past medical history of seizures and end-stage renal
disease secondary to obstructive uropathy from retroperitoneal fibrosis presented
to the emergency department with seizures and altered mental status. A Glasgow
Coma Scale of 4 prompted intubation, and she was subsequently admitted to the
intensive care unit. Magnetic resonance imaging of the brain performed to
elucidate the aetiology of her seizure showed a dural-based mass within the left
temporoparietal lobe as well as mass lesions within the orbits. Further imaging
showed extensive retroperitoneal fibrosis extending to the mediastinum with
involvement of aorta and posterior pleural space. Imaging of the long bones
showed bilateral sclerosis and cortical thickening of the diaphyses. Imaging of the
maxillofacial structures showed osseous destructive lesions involving the mandible.
These clinical and radiological features were consistent with a diagnosis of
Erdheim-Chester disease; however, the patient's skin biopsy was consistent with
Langerhans cell histiocytosis.
12/2/2015
PMID / full
text link
26579323
2015
Nov
13
Pg 2 of 139
J Clin
Endocrinol
Metab
Endocrine
manifestations in a
monocentric cohort
of 64 patients with
Erdheim-Chester
disease.
Courtillot C1,
Laugier Robiolle
S1,2, Cohen
Aubart F3,
Leban M4,
Renard Penna
R5, Drier A6,
Charlotte F7,
Amoura Z3,
Touraine P1,
Haroche J3.
3AP-HP, Hôpitaux
Universitaires La PitiéSalpêtrière - Charles
Foix, IE3M, Médecine
Interne, Centre de
Référence des Maladies
Auto Immunes et
Systémiques Rares,
Lupus et Syndrome des
Anticorps
Antiphospholipides,
Paris, F-75013, France;
CONTEXT:
Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis, characterized
by foamy histiocytes infiltration in multiple organs. Endocrine involvement has
mostly been described in case reports.
OBJECTIVE:
To perform systematic endocrine evaluation in a large cohort of ECD patients.
DESIGN:
Single-center observational study, between October 2007 and May 2013.
SETTING:
Pitié-Salpêtrière tertiary care hospital, Paris, France.
PATIENTS:
Sixty four consecutive ECD patients (SR 3.6, mean age 57.6 years [20-80]). Thirty
six had follow-up assessments.
INTERVENTIONS:
None.
MAIN OUTCOME MEASURES:
Clinical, biological and morphological evaluations of pituitary, gonadal, adrenal and
thyroid functions, as well as metabolic evaluation.
RESULTS:
Diabetes insipidus was found in 33.3% of patients, frequently inaugural of ECD.
Anterior pituitary dysfunction was found in 91.3% of patients with full anterior
pituitary evaluation, including somatotropic deficiency (78.6%), hyperprolactinemia
(44.1%), gonadotropic deficiency (22.2%), thyreotropic deficiency (9.5%) and
corticotropic deficiency (3.1%). Thirty-five patients (54.7%) had ≥ 2 anterior pituitary
dysfunctional axes, rising to 69.6% (16/23) when only considering patients with
complete evaluation. Two patients had panhypopituitarism. Infiltration of pituitary
and stalk was found on MRI in 24.4% cases. Testicular insufficiency was found in
53.1% patients, with sonographic testicular infiltration in 29% of men, mostly
bilateral. TDM adrenal infiltration was found in 39.1% of patients, and one case of
adrenal insufficiency was observed. No patient was free of endocrine hormonal or
morphological involvement. Endocrine dysfunctions were most often permanent
and new deficits appeared during follow-up.
CONCLUSION:
Endocrine involvement is very frequent in ECD and should carefully be evaluated
at diagnosis and during follow-up.
12/2/2015
26565949 /
http://press.
endocrine.o
rg/doi/pdf/1
0.1210/jc.2
015-3357
2015
Endocrinol
Diabetes Metab
Case Rep
Chinese ErdheimChester disease:
clinical-pathologyPET/CT updates.
Ding H1, Li Y2,
Ruan C3, Gao
Y4, Wang H5,
Zhang X6, Liao
Z1.
1Endocrinology and ,
the First Affiliated
Hospital of Sun Yat-sen
University , Guangzhou,
510080 , People's
Republic of China.
2015
Aug
25
Pathologe
[Erdheim-Chester
disease and RosaiDorfman disease :
Pathological,
radiological and
clinical features of
adult nonLangerhans cell
histiocytosis].
Bösmüller H1,
Nann D, Horger
M, Fend F.
1Institut für Pathologie
und Neuropathologie,
Universität Tübingen,
Liebermeisterstraße 8,
72076, Tübingen,
Deutschland,
hans.boesmueller@med
.uni-tuebingen.de.
Pg 3 of 139
Erdheim-Chester disease (ECD), one type of systemic non-Langerhans cell
histiocytosis, has been rarely seen and is characterized by the accumulation of
foamy CD68+CD1a- histiocytes. We reported a case of ECD and reviewed the
clinical features of 13 cases of ECD reported so far in China. A 53-year-old male
was diagnosed with central diabetes insipidus in March 2014, followed by fever,
splenomegaly and anemia in July 2014. His initial pituitary magnetic resonance
imaging (MRI) revealed the absence of high signal at T1-weighted image in
posterior pituitary without any lesion. A further positron emission
tomography/computer tomography (PET/CT) images showed elevated metabolic
activity of (18)F-2-fluro-D-deoxy-glucose (FDG) and low (13)N-NH3 uptake in the
posterior pituitary, and multi-organ involvement. Biopsy at right femur lesion
revealed that granulomatous infiltration of foamy histiocytes and Touton giant cells
surrounded by fibrosis tissues. Immunohistochemistry stain was positive for CD68,
negative for CD207/Langerin and S-100. The diagnosis of ECD was confirmed and
the treatment with pegylated interferon was effective. ECD was a possible immunerelated disorder concluding from the IgG4 immunohistochemistry results. We
summarized the pathological manifestations for ECD and its differential diagnosis
from Langerhans cell histiocytosis (LCH) and Rosai-Dorfman disease (RDD). ECD
should be considered by both pathologists and clinicians in the differential
diagnosis when central diabetes insipidus is accompanied with multi-organ
involvement, especially skeletal system involvement, or recurrent fever.
LEARNING POINTS:
ECD should be considered when central diabetes insipidus is accompanied with
multisystem involvement, especially symmetric/asymmetric bone lesions, or
recurrent fever.PET/CT scanning was helpful for locating pituitary lesion,
discovering multiple system involvement and indicating the biopsy sites.Conducting
proper immunohistochemistry stains was important for diagnosing ECD. ECD might
be correlated with immune disorder.
Non-Langerhans cell histiocytoses (N-LCH) of adulthood are rare disorders with
heterogeneous pathogenesis, morphology and clinical presentation. In this review
two disorders are presented, which predominantly develop in extracutaneous sites
in adults. Erdheim-Chester disease is a rare nonhereditary clonal disorder of lipid
storing histiocytes most commonly presenting as osseous involvement of the long
bones. Other organ manifestations include the central nervous system (CNS), the
cardiovascular system, the retroperitoneum and kidneys and less commonly the
skin and the lungs. Immunohistochemical staining reveals positivity for the
macrophage markers CD163, CD68 and lysozyme but CD1a and langerin are
negative, in contrast to Langerhans cell histiocytosis. Rosai-Dorfman disease is
considered to be a reactive histiocytic proliferation occurring mainly in lymph
nodes. Prominent sinuses filled with commonly multinucleated, S100-positive
histiocytes with emperipolesis are a characteristic feature and develops particularly
as extensive lymphadenopathy with massive sinus histiocytosis but can also occur
extranodally. Painless bilateral cervical lymph node enlargement is the most
common clinical presentation. This review summarizes the clinical, radiological and
histopathological findings and discusses the recent molecular advances in these
rare disorders.
12/2/2015
26527559
26305142
2015
Sep
Expert Rev Clin
Immunol.
The histiocytosis
Erdheim-Chester
disease is an
inflammatory
myeloid neoplasm.
Haroche J1,
Cohen-Aubart F,
Charlotte F,
Maksud P,
Grenier PA,
Cluzel P,
Mathian A, Emile
JF, Amoura Z.
Medicine and French
Reference Center for
Rare Autoimmune and
Systemic Diseases,
Assistance PubliqueHôpitaux de Paris, PitiéSalpêtrière Hospital,
Paris, France
2015
Sep
J Clin Neurosci
Epidural spinal
involvement of
Erdheim-Chester
disease causing
myelopathy
Hwang BY1, Liu
A1, Kern J2,
Goodwin CR1,
Wolinsky JP1,
Desai A3.
2015
Jul 15
Neurol Sci.
Erdheim-Chester
disease: yellowtinge appearance
on
neuroendoscopic
imaging.
Kon T1,
Nishijima H, Kon
H, Watanabe M,
Tomiyama M.
1Department of
Neurosurgery, Johns
Hopkins Hospital,
Baltimore, MD, USA.
2Department of
Pathology, Johns
Hopkins Hospital,
Baltimore, MD, USA.
3Department of
Neurosurgery, Stanford
University Medical
Center, 300 Pasteur
Drive Room 201,
Edwards Building MC
5327, Stanford, CA
94305, USA. Electronic
address:
[email protected].
1Department of
Neurology, Aomori
Prefectural Central
Hospital, 2-1-1 HigashiTsukurimichi, Aomori,
030-8553, Japan, [email protected]
Pg 4 of 139
Erdheim-Chester disease (ECD) is a rare, non-Langerhans histiocytosis,
characterized by the infiltration of tissues by foamy CD68(+)CD1a(-) histiocytes.
(99)Technetium bone scintigraphy revealing almost constant tracer uptake by the
long bones is highly suggestive of ECD, and a 'hairy kidney' appearance on
abdominal computed tomography scan is observed in about half of all ECD cases.
CNS involvement is a strong prognostic factor and independent predictor of death.
IFN-α seems to be the best initial treatment for ECD. More than half of all ECD
patients carry the BRAF(V600E) mutation. More than 30 patients worldwide
harboring this mutation and displaying multisystemic, refractory ECD have been
treated with vemurafenib, a BRAF inhibitor, which has proven highly beneficial.
Other recurrent mutations of the MAPK and PIK3 pathways (NRAS, PIK3CA) have
recently been described. These mutations should lead to a new classification of
histiocytic disorders such that Langerhans cell histiocytosis and ECD are classified
as inflammatory myeloid neoplasms.
We present a 25-year-old woman with Erdheim-Chester disease (ECD) presenting
with progressive myelopathy from multiple compressive spinal epidural lesions who
required cervicothoracic decompression and fusion, and summarize the literature
on epidural spinal involvement of ECD. ECD is a rare non-Langerhans histiocytosis
affecting multiple organ systems through infiltration and characteristically causing
multifocal osteosclerosis. Central nervous system involvement, particularly of the
spine, is rare.
26197238
No abstract
26173499
12/2/2015
26119978
2015
Jul
Dermatol Clin
Adult Orbital
Xanthogranulomato
us Disease: A
Review with
Emphasis on
Etiology, Systemic
Associations,
Diagnostic Tools,
and Treatment.
Kerstetter J1,
Wang J2.
2015
Jul 2
Rheumatology
(Oxford)
Treatment failure
by canakinumab in
a patient with
progressive
multisystemic
Erdheim-Chester
disease refractory
to anakinra:
successful use of
vemurafenib.
Schirmer JH1,
Thorns C2,
Moosig F3, Holle
JU3.
Pg 5 of 139
1Department of
Pathology and
Laboratory Medicine,
Loma Linda University
Medical Center, 11234
Anderson Street, Room
#2151, Loma Linda, CA
92354, USA.
2Department of
Pathology and
Anderson Street, Room
#2151, Loma Linda, CA
92354, USA. Electronic
address: [email protected].
1Vasculitis Center,
Department of
Rheumatology and
Clinical Immunology,
Klinikum Bad Bramstedt
and University Medical
Center SchleswigHolstein, Bad Bramstedt
and
[email protected]
e.
2Institute for Pathology,
University of Lübeck and
University Medical
Center SchleswigHolstein, Campus
Lübeck, Lübeck,
Germany.
3Vasculitis Center,
Department of
Rheumatology and
Klinikum Bad Bramstedt
and University Medical
Center SchleswigHolstein, Bad Bramstedt
and.
Adult orbital xanthogranulomatous diseases are rare entities and encompass a
group of disorders with varying manifestations that are poorly understood. Taken
as a group, there are non-Langerhans histiocytic disorders (type II) that are
diagnosed histologically by the presence of foamy histiocytes, Touton giant cells,
and varying degrees of fibrosis. Based on the accompanying systemic
associations, there are 4 main categories of adult xanthogranulomatous disease:
adult-onset xanthogranuloma, adult-onset asthma and periocular
xanthogranuloma, necrobiotic xanthogranuloma, and Erdheim-Chester disease.
Herein, we discuss the etiopathogenesis, systemic associations, methods of
diagnosis, and treatment options for these disorders.
26143425
No abstract
26139656
12/2/2015
2015
Jun 8
Oncotarget
Disseminated
histiocytoses
biomarkers
beyond
BRAFV600E:
frequent
expression of PDL1
Gatalica Z1,
Bilalovic N2,
Palazzo JP3,
Bender RP1,
Swensen J1,
Millis SZ1,
Vranic S2, Von
Hoff D4, Arceci
RJ5.
5Department of Child
Health, University of
Arizona College of
Medicine, Phoenix,
Ronald Matricaria
Institute of Molecular
Medicine at Phoenix
Children's Hospital,
Phoenix, Arizona, USA.
2015
Jun
11
Am J Case
Rep.
Erdheim-Chester
Disease: A Case
Report.
Alexiou J1,
Klastersky J2.
2015
Jun 4
Rev Med
Interne
Abnormal bone
scintigraphy
Ruiz JB1, El
Yaagoubi Y2,
Revel C3,
Travers JY2.
1Department of
Radiology, Institut Jules
Bordet, Brussels,
Belgium. Email:
[email protected];
2Department of
Oncology, Institut Jules
Bordet, Brussels,
Belgium.
1Service de radiologie,
CHU de la Réunion,
allée des Topazes,
97400 Saint-Denis,
Réunion. Electronic
address: [email protected].
2Service de radiologie,
CHU de la Réunion,
allée des Topazes,
97400 Saint-Denis,
Réunion.
3Service de médecine
nucléaire, CHU de la
Réunion, allée des
Topazes, 97400 SaintDenis, Réunion.
Pg 6 of 139
The histiocytoses are rare tumors characterized by the primary accumulation and
tissue infiltration of histiocytes and dendritic cells. Identification of the activating
BRAFV600E mutation in Erdheim-Chester disease (ECD) and Langerhans cell
histiocytosis (LCH) cases provided the basis for the treatment with BRAF and/or
MEK inhibitors, but additional treatment options are needed. Twenty-four cases of
neoplastic histiocytic diseases [11 extrapulmonary LCH, 4 ECD, 4 extranodal
Rosai-Dorfman disease (RDD), 3 follicular dendritic cell sarcoma (FDCS), 1
histiocytic sarcoma (HS) and 1 blastic plasmacytoid dendritic cell neoplasm
(BPDCN)] were analyzed using immunohistochemical and mutational analysis in
search of biomarkers for targeted therapy. BRAF V600E mutations were detected
in 4/11 LCH and 4/4 ECD cases. A pathogenic PTEN gene mutation and loss of
PTEN protein expression were identified in the case of HS. Increased expression
of PD-L1 (≥2+/≥5%) was seen in 3/4 ECD, 7/8 LCH, 3/3 FDCS and 1/1 HS, with
overall 81% concordance between 2 antibodies used in the study (SP142 vs.
MAB1561 clone). These results show for the first time significant expression of the
PD-L1 immune checkpoint protein in these disorders, which may provide rationale
for addition of immune check-point inhibitors in treatment of disseminated and/or
refractory histiocytoses.
BACKGROUND The diagnosis of Erdheim-Chester disease, a rare illness, is
difficult and requires increased awareness. CASE REPORT We report the case of
a 56-year-old woman who initially presented with a mesenteric panniculitis and 8
years later developed neurological manifestations and bone lesions that led to a
diagnosis of Erdheim-Chester disease. CONCLUSIONS The rather characteristic
aspect of the bone lesions as well as the presence of foamy cells in involved tissue
biopsies should suggest the diagnosis. No therapy is available at present but
recent biological data might suggest new approaches for the understanding and
therapy of this condition.
No Abstract available. Article in French
12/2/2015
26110571
26067743
26051187
2015
Jun 3
Blood
Sirolimus plus
prednisone for
Erdheim-Chester
disease: an openlabel trial
Gianffreda D
Vaglio A
2015
Jun 1
Ophthalmic
Surg Lasers
Imaging Retina
Choroidal
Involvement in
Erdheim-Chester
Disease
Abdellatief A,
Mason CM,
Ytterberg SR,
Boorjian SA,
Salomão DR,
Pulido J
2015
Apr 30
Eur J Radiol
The role of 18FDG,
18FDOPA PET/CT
and 99mTc bone
scintigraphy
imaging in
Erdheim-Chester
disease.
García-Gómez
FJ1
Pg 7 of 139
Italy augusto.vaglio@vir
gilio.it
[email protected]
m
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis, to
whose pathogenesis neoplastic and immune-mediated mechanisms contribute.
Mammalian target of rapamycin (mTOR)-inhibitors have anti-proliferative and
immunosuppressive properties. We here tested the efficacy and safety of the
mTOR-inhibitor sirolimus plus prednisone in patients with ECD. Prednisone was
given initially at 0.75 mg/kg/day, tapered to 5-2.5 mg/day by month 6. Target
sirolimus blood levels were 8-12 ng/mL. Treatment was continued for at least 24
months in patients who showed disease stabilisation or improvement. Ten patients
were enrolled; eight achieved stable disease or objective responses, while two had
disease progression. Responses were mainly observed at the following sites:
retroperitoneum in 5/8 patients (62.5%), cardiovascular in 3/4 (75%), bone in 3/9
(33.3%), central nervous system (CNS) in 1/3 (33.3%). The median follow-up was
29 months (interquartile range 16.5-74.5); two patients died, respectively of
progressive CNS disease and small-cell lung cancer. Treatment-related toxicity
was mild. Using immunohistochemistry and immunofluorescence on ECD biopsies,
we detected expression in foamy histiocytes of the phosphorylated forms of mTOR
and of its downstream kinase p70S6K, which indicated mTOR pathway activation.
In conclusion, sirolimus and prednisone often induce objective responses or
disease stabilisation and may represent a valid treatment for ECD.
Erdheim-Chester disease is a rare infiltrative disorder of non-Langerhans cell
histiocytes, which affects multiple organs, including bone, heart, lungs, orbits,
central nervous system (CNS), pituitary gland, and retroperitoneum. Bone affliction
is almost universal in these patients and, to a lesser degree, the CNS,
retroperitoneum, and other tissues. Eye involvement is typically retro-orbital or
periorbital. This case report describes a 48-year-old patient who presented with
reduced vision in the left eye and no other complaints. Fundus examination
revealed a choroidal mass in the macula. The authors believe that this might be the
second case of choroidal involvement in Erdheim-Chester disease. [Ophthalmic
Surg Lasers Imaging Retina. 2015;46:674-676.
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocitosis,
characterized by multisystemic xanthogranulomatous infiltration by foamy
histiocytes that stain positively for CD68 marker but not express CD1a and S100
proteins. Etiology and pathogenesis are still unknown and only about 500 cases
are related in the literature. Multisystemic involvement leads to a wide variety of
clinical manifestations that results in a poor prognosis although recent advances in
treatment. We present the clinical, nuclear medicine findings and therapeutic
aspects of a serie of 6 patients with histopathological diagnosis of ECD, who have
undergone both bone scintigraphy (BS) and 18F-fluorodeoxyglucose (18FDG)PET/CT scans in our institution. A complementary 18F-fluorodopa (18FDOPA)PET/CT was performed in one case. Three different presentations of the disease
were observed in our casuistic: most indolent form was a cutaneous confined
disease, presented in only one patient. Multifocal involvement with central nervous
system (CNS) preservation was observed in two patients. Most aggressive form
consisted in a systemic involvement with CNS infiltration, presented in three
patients. In our experience neurological involvement, among one case with isolate
pituitary infiltration, was associated with mortality in all cases. 18FDG-PET/CT and
BS were particularly useful in despite systemic involvement; locate the site for
biopsy and the treatment response evaluation. By our knowledge, 18FDOPAPET/CT not seems useful in the initial staging of ECD. A baseline 18FDG-PET/CT
and BS may help in monitoring the disease and could be considered when patients
were incidentally diagnosed and periodically 18FDG-PET/CT must be performed in
the follow up to evaluate treatment response.
12/2/2015
26041743
26114850
25975897
2015
Apr
Case Rep
Hematol.
Rare form of
erdheim-chester
disease
presenting with
isolated central
skeletal lesions
treated with a
combination of
alfa-interferon and
zoledronic Acid
Bulycheva EN1,
Baykov VV2,
Zaraĭskiĭ MI2,
Salogub GN2
1First Pavlov State
Medical University of St.
Petersburg, L'va
Tolstogo Street, No. 6/8,
Saint Petersburg
197022, Russia ;
University Hospital Carl
Gustav Carus,
Fetscherstrasse 74,
01307 Dresden,
Germany.
Erdheim-Chester disease (ECD) represents a clonal non-Langerhans histiocytosis,
which manifests under an extensive variety of clinical symptoms. This creates a
challenge for the physician, who is required to recognize and diagnose the disease
in the early stages. Despite this considerable challenge, in the last decade there
has been a dramatic increase in ECD diagnoses, in most part due to an increasing
awareness of this rare disorder. Involvement of the axial skeleton is exclusively
uncommon with no official recommendations for the treatment of the bone lesions.
Here, we present a case report of a young male patient with isolated lesions of the
spine, ribs, and pelvis, who was successfully treated with a combination therapy of
alfa-interferon and zoledronic acid.
25949835
2015
Feb
10
J Clin Oncol.
Arceci RJ
[email protected]
du
Comment on
Reproducible and sustained efficacy of targeted therapy with vemurafenib in
patients with BRAF(V600E)-mutated Erdheim-Chester disease. [J Clin Oncol.
2015]
25534378
2015
JanApr
Hell J Nucl Med
Dendritic cell
disorders: matters
of lineage and
clinical drug
testing in rare
diseases.
Correlative bone
imaging in a case
of Schnitzler's
syndrome and
brief review of the
literature.
Willekens I1,
Walgraeve N,
Goethals L, De
Geeter F.
1Department of Nuclear
Medicine Algemeen
Ziekenhuis, Sint-Jan
Brugge-Oostende
Ruddershove 10, B8000 Brugge,
Belgium. frank.degeeter
@azsintjan.be
Schnitzler's syndrome is a rare disease characterized by a monoclonal IgM (or IgG)
paraprotein, a nonpruritic urticarial skin rash, and 2 (or 3) of the following: recurrent
fever, objective signs of abnormal bone remodeling, elevated CRP level or
leukocytosis, and a neutrophilic infiltrate on skin biopsy. It responds well to
treatment with the interleukine-1-inhibitor anakinra. We report the bone
scintigraphy and MRI findings in a 45 years old man with this syndrome and
compare them with data from the literature.
CONCLUSION:
None of the imaging findings are specific, but they lead to a differential diagnosis
including infiltrative diseases (e.g. systemic mastocytosis or Erdheim-Chester
disease) and dysplastic diseases (e.g. melorheostosis, Camurati-Engelmann
disease or van Buchem disease). The bone scintigraphy pattern may be very
suggestive of the correct diagnosis and of bone involvement in this syndrome.
25840575
Pg 8 of 139
12/2/2015
2015
Endocrinol
Diabetes Metab
Case Rep.
Symptomatic
empty sella
syndrome: an
unusual
manifestation of
Erdheim-Chester
disease.
Loh WJ1,
Sittampalam K2,
Tan SC3,
Chandran M1.
1Osteoporosis and Bone
Metabolism Unit,
Department of
Endocrinology,
Singapore General
Hospital , Academia, 20,
College Road,
Singapore, 169856 ,
Singapore.
2Department of
Pathology, Singapore
General Hospital ,
Academia, 20, College
Road, Singapore,
169856 , Singapore.
3Department of
Radiology, Singapore
General Hospital ,
Academia, 20, College
Road, Singapore,
169856 , Singapore.
2015
Feb
17
Crit Rev Oncol
Hematol
Erdheim-Chester
disease: A
systematic
review.
Cives M1,
Simone V1,
Rizzo FM1,
Dicuonzo F2,
Cristallo
Lacalamita M2,
Ingravallo G3,
Silvestris F4,
Dammacco F1.
1Department of
Biomedical Sciences
and Human Oncology,
University of Bari "A.
Moro", Bari, Italy.
2Department of
Neuroradiology,
Moro", Bari, Italy.
3Department of
Pathology, University of
Bari "A. Moro", Bari,
Italy.
4Department of
Biomedical Sciences
and Human Oncology,
Moro", Bari, Italy.
Electronic address:
francesco.silvestris@uni
ba.it.
Pg 9 of 139
Abstract
Erdheim-Chester disease (ECD) is a potentially fatal condition characterized by
infiltration of multiple organs by non-Langerhans histiocytes. Although endocrine
dysfunction has been reported in association with ECD, to date, there have been
no previous reports of empty sella syndrome (ESS) associated with it. We report
the case of a patient with ECD who had symptomatic ESS. A 55-year-old man of
Chinese ethnicity initially presented with symptoms of heart failure, fatigue and
knee joint pain. Physical examination revealed xanthelasma, gynaecomastia, lung
crepitations, hepatomegaly and diminished testicular volumes. He had laboratory
evidence of hypogonadotrophic hypogonadism, secondary hypoadrenalism and
GH deficiency. Imaging studies showed diffuse osteosclerosis of the long bones on
X-ray, a mass in the right atrium and thickening of the pleura and of the thoracic
aorta on fusion positron emission tomography-computed tomography. Magnetic
resonance imaging (MRI) of the brain showed an empty sella. The diagnosis of
ECD was confirmed by bone biopsy.
LEARNING POINTS:
ECD is a multisystemic disease that can affect the pituitary and other organs. The
diagnosis of ECD is based on clinical and radiological features and histology,
showing lipid-laden CD68(+) CD1a(-) S100(-) histiocytes surrounded by
fibrosis.The finding of xanthelasmas especially in the presence of normal lipid
levels in the presence of a multisystem infiltrative disorder should raise the
suspicion of ECD.Systemic perturbation of autoimmunity may play a role in the
pathogenesis of ECD and is an area that merits further research.
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans-cell
histiocytosis, associated in more than 50% of cases to BRAFV600E mutations in
early multipotent myelomonocytic precursors or in tissue-resident histiocytes. It
encompasses a spectrum of disorders ranging from asymptomatic bone lesions to
multisystemic, life-threatening variants. We reviewed all published reports of
histologically-confirmed ECD and explored clinical, radiological, prognostic and
therapeutic characteristics in a population of 448 patients, including a unique
patient from our Department. To find a clinically relevant signature defining
differentiated prognostic profiles, the patients' disease features were compared in
relation to their CNS involvement that occurred in 56% of the entire population.
Diabetes insipidus, visual disturbances, pyramidal and extra-pyramidal syndromes
were the most recurrent neurological signs, whereas concomitant pituitary
involvement, retro-orbital masses and axial lesions in the presence of symmetric
bilateral osteosclerosis of long bones depicted the typical ECD clinical picture.
Patients with CNS infiltration showed a lower occurrence of heart involvement and
a higher incidence of bone, skin, retro-peritoneal, lung, aortic and renal infiltration.
No difference in the therapeutic algorithm was found after stratification for CNS
involvement. A better understanding of the disease pathogenesis, including BRAF
deregulation, in keeping with improved prognostic criteria, will provide novel
suggestions for the management of ECD.
12/2/2015
25810917
25744785
2015
Feb
26
Neurol
Neuroimmunol
Neuroinflamm
Complete
remission of
critical
neurohistiocytosi
s by vemurafenib.
Euskirchen P1,
Haroche J1,
Emile JF1,
Buchert R1,
Vandersee S1,
Meisel A1.
1Departments of
Neurology (P.E., A.M.),
Nuclear Medicine (R.B.),
and Dermatology (S.V.),
Charité
Universitätsmedizin
Berlin, Germany;
Service de Médecine
Interne (J.H.), Hôpital
Pitié-Salpêtrière, Paris,
France; and Service de
Pathologie (J.-F.E.),
Hôpital universitaire
Ambroise Paré, Paris,
France.
2015
Feb
27
J Neurosurg
Pediatr
Erdheim-Chester
disease mimicking
an intracranial
trigeminal
schwannoma: case
report
Alimohamadi
M1, Hartmann C,
Paterno V, Samii
M.
1Department of
Neurosurgery, Sina
Hospital, Tehran
University of Medical
Sciences (TUMS),
Tehran, Iran,
[email protected]
om
Pg 10 of 139
To describe a patient with life-threatening brainstem neurohistiocytosis who
recovered completely upon targeted treatment with the V600E mutation-specific
BRAF inhibitor vemurafenib.
METHODS:
We report clinical, histiologic, genetic, and sequential imaging findings, including
fluorodeoxyglucose (FDG)-PET, over a follow-up period of 11 months.
RESULTS:
The patient presented with central hyperventilation, skeletal and perirenal ErdheimChester disease, and cutaneous Langerhans cell histiocytosis. A BRAF V600E
hotspot mutation was detected in all afflicted tissues. Therapy with vemurafenib led
to complete and stable clinical remission of CNS lesions and systemic disease that
could be demonstrated by brain MRI and whole-body FDG-PET.
CONCLUSIONS:
Neurologic involvement in Erdheim-Chester disease usually confers a poor
prognosis. In this patient, vemurafenib was well-tolerated and highly efficacious for
severe brainstem involvement in Erdheim-Chester disease with overlapping
Langerhans cell histiocytosis. This case illustrates the heterogeneous phenotypic
spectrum of neurohistiocytosis and underscores the importance of genetic testing.
CLASSIFICATION OF EVIDENCE:
This article provides Class IV evidence. This is a single observational study without
controls.
Erdheim-Chester disease (ECD) is non-Langerhans histiocytosis that can affect
multiple organ systems. It usually affects middle-aged patients, and only a few
reports of ECD in children appear in the literature. Central nervous system
involvement is a common feature that usually occurs as infiltration of the
hypothalamus-pituitary axis, cerebellum, and/or brainstem. Meningeal involvement
occurs less commonly. In this article, the authors discuss a rare pediatric case of
ECD presenting as an infiltrative mass of the trigeminal nerve and resembling the
clinical and imaging features of a trigeminal schwannoma.
12/2/2015
25745636
25723722
2015
Feb
26
Cancer Res
Treat
A Unique Case of
Erdheim-Chester
Disease with Axial
Skeleton, Lymph
Node, and Bone
Marrow
Involvement.
Lim J1, Kim
KH2, Suh KJ1,
Yoh KA1, Moon
JY3, Kim JE4,
Roh EY5, Choi
IS2, Kim JS2,
Park JH2.
2015
Feb 1
Br J Dermatol
Multiple cutaneous,
oropharyngeal and
pulmonary nodules
Veraitch O1,
Bhargava K,
Moriarty B,
Calonje E,
Mallipeddi R,
Whittaker S.
Pg 11 of 139
1Division of Hematology
and Medical Oncology,
Department of Internal
Medicine, Seoul
National University
Hospital, Seoul, Korea.
2Division of Hematology
and Medical Oncology,
Medicine, Seoul
National University
Boramae Medical
Center, Seoul, Korea.
3Division of
Rheumatology,
Medicine, Seoul
National University
4Department of
Pathology, Seoul
National University
Boramae Medical
Center, Seoul, Korea.
5Department of
Seoul National
University Boramae
Medical Center, Seoul,
Korea.
Sean Whittaker:
[email protected]/
Erdheim-Chester disease is a rare non-Langerhans-cell histiocytosis with bone and
organ involvement. A 76-year-old man presented with low back pain and a history
of visits for exertional dyspnea. We diagnosed him with anemia of chronic disease,
cytopenia related to chronic illness, chronic renal failure due to hypertension, and
hypothyroidism. However, we could not determine a definite cause or explanation
for the cytopenia. Multiple osteosclerotic axial skeleton lesions and axillary lymph
node enlargement were detected by computed tomography. Bone marrow biopsy
revealed histiocytic infiltration, which was CD68 positive and CD1a negative. This
report describes an unusual presentation of Erdheim-Chester disease involving the
bone marrow, axial skeleton, and lymph nodes.
25715762
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis that is
defined by heterogeneous multi-organ involvement. Due to rarity of disease strong
evidence based therapies have yet to be established and prognosis has previously
been considered to be poor, with more than half of patients dying within three years
of initial presentation. We describe an 86 year old lady with a 34 year history of
extensive cutaneous and internal nodules with typical pathologic and
immunophenotypic (CD68+/CD1a-) features of Erdheim Chester disease without
evidence of the BRAFV600E mutation. Cosmetic appearance of cutaneous
nodules and hoarse voice caused by vocal cord nodules has been managed
surgically. More aggressive therapies reported for ECD were trialed for this patient,
such as radiotherapy and interferon alpha with no response. This case
demonstrates a relatively good prognosis in ECD that has been managed
conservatively. This article is protected by copyright. All rights reserved.
25639756
12/2/2015
2015
Jan
Eur J Intern
Med
An enlightening
scan.
Canziani L1,
Tomelleri A2,
Cavalli G
2014
Dec
Zhonghua Bing
Li Xue Za Zhi
Clinical and
pathologic
characteristics of
Erdheim-Chester
disease]
Lu T1, Cao X,
Luo Y, Cai H,
Zhang W, Zhong
D2.
2014
Dec
Arch Esp Urol.
Uncommon renal
masses: Perirenal
extramedullary
hematopoiesis and
multiple
lymphangiomatosis
with a perirenal
lymphangioma.
CogornoWasylkowski L1,
Martínez-Pérez
E, CarvajalBuitrago DF,
VázquezRodríguez G,
Guinda-Sevillano
CE.
Pg 12 of 139
1Vita-Salute San
Raffaele University,
Italy. Electronic address:
[email protected]
r.it.
2Vita-Salute San
Italy.
3Unit of Internal
Medicine and Clinical
Immunology, IRCCS
San Raffaele Scientific
Institute, Italy.
1Department of
Pathology, Peking Union
Medical College
Hospital, Peking Union
Medical College,
Chinese Academy of
Medical Science, Beijing
100730, China.
2 Email: zhongdingrong@si
na.com.| Department of
Medical Oncology,
Tianjin Medical
University General
Hospital, Tianjin 300052,
China;Tianjin Lung
Cancer Institute
Servicio de Urología.
Hospital Santa Bárbara
de Soria. España
Currently :
Hospital Universitario
Infanta Sofía
A 56-year-old man with a 4-year history of diabetes insipidus sought medical
attention for bilateral knee pain. He had no history of trauma. He reported
unintentional weight loss of approximately 8 kg in the last 6 months.
25023920
OBJECTIVE:
To explore the clinicopathologic features, immunophenotype, differential diagnosis
and gene mutation status of the Erdheim-Chester disease (ECD).
METHODS:
Clinical and pathologic findings of 3 ECD cases were examined by gross,
microscopic, immunohistochemical methods and BRAF V600E mutation. Related
literatures were reviewed.
RESULTS:
Two male patients and one female patient presented clinically with multiple skin
nodules, bone pain and bony lesions by imaging study. Microscopically, the lesions
were composed of spindle-shaped fibroblasts, foamy histiocytes and scattered
Touton-type giant cells embedded in reactive fibrous tissue. Lymphocytes, plasma
cells, and multinucleated giant cells were also found. Immunohistochemically, all
histiocytes were positive for CD68, none of which expressed CD1a, although 2
cases focally expressed weak S-100 stain. In 2 cases,BRAF V600E mutation was
detected.
CONCLUSIONS:
ECD is a rare disease of xanthogranulomatous histiocytosis.Its diagnosis relies on
pathological and immunohistochemical findings, but correlation with clinical
information, especially radiographic findings should be performed.No effective
treatment of the disease is currently available.
OBJECTIVE To present two cases of infrequent renal masses, trying to achieve the
diagnosis before surgery. METHODS: We describe a case referred from the
Department of Hematology in which bilateral perirrenal masses were described in
the CT scan; after biopsy they where classified as extramedullary hematopoietic
tissue. The other case was a patient presenting to the emergency room with
dyspnea. CT Scan showed lungs with multiple cysts, chylothorax and a cystic-solid
mass in the left perirenal space. In the lung biopsy they reported lung
lymphangiomatosis, so we didn't perform renal biopsy. RESULTS: Most renal
masses are renal carcinomas (856%). The less common diagnosis are sarcomas,
lymphomas, upper urinary tract transitional cell carcinomas, metastases of other
primary tumors, the Erdheim-Chester disease, the Castleman disease and benign
tumors. All these diseases might show similar images in the CT scan and MRI,
being the biopsy and histological study necessary for the diagnosis
CONCLUSIONS: Perirenal extramedullary hematopoiesis and perirenal
lymphangioma are rare diseases that need a pathologic study for their diagnosis.
25623977
12/2/2015
25582904
2015
Jan 7
Cochlear
Implants Int.
Hearing
rehabilitation with a
binaural cochlear
implant in a patient
with ErdheimChester disease.
Querat
C, Thai-Van
H, Vital Durand
D, Cotton
F, Gallego
S, Truy E.
1Service ORL et de
chirurgie cervicofaciale,
hôpital Nord, CHU de
Saint-Étienne, 42055
Saint-Étienne cedex 2,
France. Electronic
address:
[email protected].
2014
Dec
16
2014
Nov
18
Rev Neurol.
Neurological onset
of Erdheim-Chester
disease
Idiopathic and
secondary forms of
retroperitoneal
fibrosis: A
diagnostic
approach
Cuello-Oderiz
C1, Pigretti S,
Patrucco L.
Urban ML1,
Palmisano A1,
Nicastro M1,
Corradi D2,
Buzio C1, Vaglio
A3.
Hospital Italiano de
Buenos Aires, Buenos
Aires, Argentina.
[email protected]
t
2014
Dec 1
BMC Med
Clinical
considerations and
key issues in the
management of
patients with
Erdheim-Chester
Disease: a seven
case series.
Mazor RD,
Manevich-Mazor
M, Kesler A,
Aizenstein O,
Eshed I, Jaffe R,
Pessach Y,
Goldberg I,
Sprecher E,
Yaish I, Gural A,
Ganzel C,
Shoenfeld Y1.
1The Zabludowicz
Center for Autoimmune
Diseases, Sheba
Medical Center, Tel
Hashomer, Israel.
[email protected].
Pg 13 of 139
Rev Med
Interne.
Objective and importance Erdheim-Chester disease (ECD) is a rare nonLangerhans form of histiocytosis. This paper reports an exceptional case of
bilateral neural involvement, responsible for profound hearing loss. Bilateral
cochlear implantation was performed. Clinical presentation We present a 57-yearold man affected by ECD with profound bilateral hearing loss. Intervention The
patient underwent cochlear implantation with a binaural Digisonic® cochlear
implant, 7 years after the initial diagnosis. Results Speech intelligibility rose to a
plateau after about 6 months of cochlear implant use. The average outcome of
speech intelligibility over time was 55% for dissyllabic words without lip reading,
and 70% for sentences. Perception score decreased before the patient died from
ECD. Conclusion A description of the ECD and its otological manifestations is
presented. This paper reports the effective hearing rehabilitation of profound
bilateral hearing loss by the means of a binaural Digisonic® cochlear implant.
In Spanish
Retroperitoneal fibrosis (RPF) is an uncommon disease characterized by a fibrous
reaction that takes place in the peri-aortic retroperitoneum and often entraps the
ureters causing obstructive uropathy. RPF is idiopathic in the majority of cases, but
can also be secondary to malignancies, infections, drugs, radiotherapy, and rare
histiocytic disorders such as Erdheim-Chester disease. Idiopathic RPF is an
immune-mediated disease, which can either be isolated, associated with other
autoimmune diseases, or arise in the context of a multifocal fibro-inflammatory
disorder recently renamed as IgG4-related disease. The differential diagnosis
between idiopathic, IgG4-related and secondary RPF is crucial, essentially
because the therapeutic approaches - especially of idiopathic vs. secondary RPF can be dramatically different. This review focuses on the clinical, laboratory and
imaging features of the different RPF forms, and also provides an overview of the
available treatment options.
Seven patients (five men, two women) were recruited to the study. The median age
at presentation was 53 years (range: 39 to 62 years). The median follow-up time
was 36 months (range: 1 to 72 months). Notable ECD involvement sites included
the skeleton (seven), pituitary gland (seven), retroperitoneum (five), central nervous
system (four), skin (four), lungs and pleura (four), orbits (three), heart and great
vessels (three) and retinae (one). Prominent signs and symptoms were fever
(seven), polyuria and polydipsia (six), ataxia and dysarthria (four), bone pain (four),
exophthalmos (three), renovascular hypertension (one) and dyspnea (one). The
V600E BRAF mutation was verified in three of six patients tested. Interferon-α
treatment was beneficial in three of six patients treated. Vemurafenib yielded
dramatic neurological improvement in a BRAF mutated patient. Infliximab facilitated
pericardial effusion volume reduction. Cladribine improved cerebral blood flow
originally compromised by perivenous lesions.
CONCLUSIONS: ECD is a complex, multi-systemic, clonal entity coalescing both
neoplastic and inflammatory elements and strongly dependent on impaired
RAS/RAF/MEK/ERK signaling.
12/2/2015
25563401
25501457
25434739
2014
Aug
31
J Radiol Case
Rep.
2014
Nov
24
J Clin Oncol.
2014
Jul 24
Blood.
Pg 14 of 139
Erdheim-Chester
disease with rare
radiological
features in a 14year old girl with
pre-B Acute
Lymphocytic
Leukemia and
Diabetes mellitus.
Reproducible and
Sustained Efficacy
of Targeted
Therapy With
Vemurafenib in
Patients With
BRAFV600EMutated ErdheimChester Disease.
Krishna VV1,
James TE1,
Chang KT2, Yen
SS3.
KK Women's and
Singapore.
We report a case of a 14 year-old girl with Diabetes Mellitus who was in remission
with pre-B cell Acute Lymphoblastic Leukemia and subsequently diagnosed with
Erdheim-Chester disease. Erdheim-Chester disease is a non-Langerhans cell
histiocytosis and is very rare in children. In addition, the radiological features of the
lesions are atypical and have not been reported in children. There is no known
association between the three conditions and this is the first reported case in the
literature. A literature review of Erdheim-Chester disease will be performed.
25426240
Haroche J1,
Cohen-Aubart
F2, Emile JF2,
Maksud P2,
Drier A2,
Tolédano D2,
Barete S2,
Charlotte F2,
Cluzel P2,
Donadieu J2,
Benameur N2,
Grenier PA2,
Besnard S2, Ory
JP2, Lifermann
F2, Idbaih A2,
Granel B2,
Graffin B2,
Hervier B2,
Arnaud L2,
Amoura Z2.
Hôpital Pitié-Salpêtrière
25422482
Writing guidelines
without a net: ECD.
Abla O1, Arceci
R2.
1HOSPITAL FOR SICK
CHILDREN;
2PHOENIX
CHILDREN'S
HOSPITAL
PURPOSE:Histiocytoses are rare disorders with heterogeneous prognosis.
BRAFV600E mutations have been observed in half of patients with Langerhans cell
histiocytosis (LCH) and in 50% to 100% of patients with Erdheim-Chester disease
(ECD) patients. We recently reported short-term efficacy of a BRAF inhibitor
(vemurafenib) in three patients with multisystemic ECD.
PATIENTS AND METHODS: Vemurafenib was given to eight patients with
multisystemic ECD with CNS and/or cardiac involvement. All patients were
refractory to first-line treatment and harbored a BRAFV600E mutation. Four
patients also had LCH lesions. Positron emission tomography (PET) scan
response at month 6 was used as the main evaluation criterion. Secondary
evaluation criteria were comparison at baseline and at last visit of PET and of
cardiovascular and cerebral infiltrations (computed tomography scan and magnetic
resonance imaging [MRI]).
RESULTS: All patients were partial metabolic responders at 6 months of
vemurafenib, and the median reduction in maximum standardized uptake value
was 63.5% (range, 41.3% to 86.9%). Evaluation of cardiac and aortic infiltrations
showed that seven patients had a partial response and one patient had stable
disease according to surface measurements derived from RECIST criteria. The
four patients with infratentorial CNS infiltration had an objective decrease of the
lesions on MRI. All patients had an improvement of general symptoms and a
persistent response to vemurafenib, with a median follow-up time of 10.5 months
(range, 6 to 16 months). Skin adverse effects were frequent and severe.
CONCLUSION: Vemurafenib has an objective and sustained efficacy in
BRAFV600E-mutated ECD as second-line therapy. In contrast to melanoma, no
resistance has emerged to date after 6 to 16 months.
Consensus guidelines for the diagnosis and clinical management of ErdheimChester disease.
12/2/2015
25061167
2014
Nove
mberDece
mber
Radiographics
More than Just
Langerhans Cell
Histiocytosis: A
Radiologic Review
of Histiocytic
Disorders.
Zaveri J1, La Q,
Yarmish G,
Neuman J.
1. From the Department
of Radiology, Staten
Island University
Hospital, 475 Seaview
Ave, Staten Island, NY
10305.
2014
Sep
30
Neurology
Marked efficacy of
vemurafenib in
suprasellar
Erdheim-Chester
disease.
See Doctor List
2014
Oct 16
Cancer Discov.
Prospective
Blinded Study of
BRAFV600E
Mutation Detection
in Cell-Free DNA of
Patients with
Systemic
Histiocytic
Disorders.
Cohen-Aubart
F1, Emile JF1,
Maksud P1,
Galanaud D1,
Idbaih A1,
Chauvet D1,
Amar Y1,
Benameur N1,
Amoura Z1,
Haroche J
Hyman DM1,
Diamond EL2,
Vibat CR3,
Hassaine L3,
Poole JC3, Patel
M4, Holley VR5,
Cabrilo G5, Lu
TT3, Arcila ME6,
Chung YR7,
Rampal R4,
Lacouture ME8,
Rosen N9,
Meric-Bernstam
F5, Baselga J7,
Kurzrock R10,
Erlander MG3,
Janku F5, AbdelWahab O11.
Pg 15 of 139
1Developmental
Therapeutics Unit,
Department of Medicine,
Memorial Sloan
Kettering Cancer
Center.
Although Langerhans cell histiocytosis (LCH) is a familiar entity to most radiologists
and to pediatric radiologists in particular, it is but one of a group of disorders
caused by the overproduction of histiocytes, a subtype of white blood cells. Other
less familiar diseases in this category are Erdheim-Chester disease (ECD), juvenile
xanthogranuloma (JXG), Rosai-Dorfman disease (RDD), and hemophagocytic
lymphohistiocytosis (HLH). This review describes the classification system, clinical
manifestations, and pathophysiology of each disease, with particular attention to
differential radiographic findings, including typical locations of involvement and
varying appearances at radiography, computed tomography, magnetic resonance
imaging, ultrasonography, and nuclear medicine imaging. Although LCH has a
wide variety of manifestations and appearances, classic imaging findings include
vertebra plana, skull lesions with a beveled edge, the "floating tooth" sign, bizarre
lung cysts, and an absent posterior pituitary bright spot with infundibular thickening.
The classic imaging findings of ECD are a perirenal rind of soft tissue and patchy
long bone osteosclerosis. RDD has more nonspecific imaging findings, including
lymphadenopathy (most commonly cervical) and intracranial lesions. Imaging
findings in HLH are broad, with the most common abnormalities being
hepatosplenomegaly, cerebral volume loss, and periventricular white matter
abnormalities. JXG can manifest at imaging, but radiology does not play a major
role in diagnosis. Familiarity with these disorders and their associated imaging
findings facilitates correct and timely diagnosis. Imaging also features prominently
in the assessment of treatment response. ©RSNA, 2014.
N/A
25384298
Patients with Langerhans Cell Histiocytosis (LCH) and Erdheim-Chester Disease
(ECD) have a high frequency of BRAFV600E mutations and respond to RAF
inhibitors. However, detection of mutations in tissue biopsies is particularly
challenging in histiocytoses due to low tumor content and stromal contamination.
We applied a droplet-digitial PCR assay for quantitative detection of the
BRAFV600E mutation in plasma and urine cell-free (cf)DNA and performed a
prospective, blinded study in 30 ECD/LCH patients. There was 100% concordance
between tissue and urinary cfDNA genotype in treatment naïve samples. cfDNA
analysis facilitated identification of previously undescribed KRASG12S mutant ECD
and dynamically tracked disease burden in patients treated with a variety of
therapies. These results indicate that cfDNA BRAFV600E mutational analysis in
plasma and urine provides a convenient and reliable method of detecting
mutational status and can serve as a non-invasive biomarker to monitor response
to therapy in LCH and ECD.
25324352
12/2/2015
25171932
2014
JulAug
Neurol India.
2014
Jul
Harefuah.
2014
Aug
22
2014
Aug
19
Pg 16 of 139
Central nervous
system Erdheim
Chester disease
presenting with
raised intracranial
pressure and
cerebellar signs
mimicking
neurosarcoidosis
with secondary
cerebral venous
thrombosis.
Erdheim-Chester
disease
Viswanathan S1,
Kadir NA, Lip
AC, Rafia MH.
1Department of
Neurology, Kuala
Lumpur Hospital, Kuala
Lumpur, Malaysia.
Blood
Recurrent RAS and
PIK3CA mutations
in Erdheim-Chester
disease
Emile JF1,
Diamond EL2,
Amoura Z4,
Abdel-Wahab
O15, Haroche
J4.
1EA4340, Versailles
University, Boulogne,
France; etc.
Tidsskr Nor
Laegeforen.
A man in his forties
with swelling in
both orbits
Midtvedt Ø1,
Gran JT1,
Solheim H2,
Kirkhus E2,
Spetalen S3.
1Revmatologisk
avdeling Oslo
universitetssykehus,
Rikshospitalet.
2Avdeling for radiologi
og nukleærmedisin Oslo
Rikshospitalet.
3Avdeling for patologi
Oslo
Radiumhospitalet.
Mazor RD,
Shoenfeld Y.
N/A
25237960
Erdheim-Chester disease is an orphan condition which involves the ongoing
proliferation, migration and infiltration of the typical CD68(+), CD1a(-) histiocytes to
various target foci. Consequently, both the infiltrating and fibrosing elements of the
disease promote end organ damage and ultimately, failure. Presentation of the
Erdheim-Chester disease typically involves longstanding diabetes insipidus in
conjunction with intensifying bone pain that classically affects the femurs and
tibiae. Alternatively, the disease may present with neurological deterioration of
cerebellar nature. Thus, a high index of clinical suspicion is required when facing a
patient with the combination of longstanding diabetes insipidus in conjunction with
bone pain or cerebellar dysfunction. Typical symmetric, bilateral increased tracer
uptake on a 99mTc bone scintigraphy invoLving the femurs and tibiae, is strongly
suggestive of the Erdheim-Chester disease. interferon alpha is considered as the
first line of treatment. Nevertheless, recent accumulated data suggests that this
disease heavily relies on the Ras/Raf/MEK/ERK signal transduction pathway as
inhibition of the V600E mutant BRAF by the small molecule vemurafenib among
patients who are carriers of this mutation, yielded dramatic clinical responses.
Erdheim-Chester Disease (ECD) is a rare histiocytic disorder that is challenging to
diagnose and treat. We performed molecular analysis of BRAF in the largest cohort
of ECD patients studied to date followed by N/KRAS, PIK3CA, and AKT1
mutational analysis in BRAF wildtype patients. 57.5% (46/80) of patients were
BRAFV600E mutant. NRAS mutations were detected in 3/17 ECD BRAFV600E
wildtype patients. PIK3CA mutations (p.E542K, p.E545K, p.A1046T and
p.H1047R) were detected in 7/55 patients, of whom 4 also had BRAF mutations.
Mutant NRAS was present in peripheral blood CD14+ cells, but not lymphoid cells,
from an NRASQ61R mutant patient. Our results underscore the central role of
RAS-RAF-MEK-ERK activation in ECD and identify an important role of activation
of RAS-PI3K-AKT signalling in ECD. These results provide a rationale for targeting
mutant RAS or PI3K/AKT/mTOR signalling in the subset of ECD patients with
NRAS or PIK3CA mutations.
Erdheim-Chester disease. A multi-disiplinary challenge. The histiocytoses are a
diverse, but rare group of disorders with symptoms affecting many organs, varying
from self-limiting, localised lesions to disseminated multi-organ disease. The
diagnostic challenges are illustrated and discussed in the following case.
25189027
12/2/2015
25150293
25138406
2014
Aug
Klin Onkol
Impact of anakinra
treatment on
cytokine and
lymphocytes/ mono
cytes profile of an
Erdheim-Chester
patient.
Sevčíková S,
Kubiczková L,
Sedlaříková L,
Ríhová L,
Kryukov F,
Szturz P, Hajek
R, Pour L, Adam
Z.
Adam Z.: Interní
hematoonkologická
klinika, LF MU a FN
Brno.
[email protected]
2014
May
27
Rev Med
Interne.
Erdheim-Chester
disease
Haroche J,
Cohen-Aubart F,
Arnaud L,
Hervier B,
Charlotte F,
Drier A,
Gorochov G,
Grenier PA,
Cluzel P,
Maksud P, Emile
JF, Amoura Z.
2014
May
28
Clin Nucl Med.
Visualization of
Orbital Involvement
of Erdheim-Chester
Disease on
PET/CT.
Beylergil V,
Carrasquillo JA,
Hyman DM,
Diamond EL.
Service de médecine
interne 2, Centre
national de référence
maladies systémiques
rares, groupe hospitalier
Pitié-Salpêtrière, AP-HP,
UPMC, université Paris6, 47-83, boulevard de
l'Hôpital, 75651 Paris,
France. Electronic
address:
[email protected]
.fr
Molecular and Imaging
Therapy Service,
Department of
Radiology, Memorial
Sloan-Kettering Cancer
Center, NY, NY
Pg 17 of 139
Erdheim-Chester disease (ECD) is a rare non-Langerhans cells histiocytosis
associated with intense immune activation. In our clinical center, an ECD patient
was treated with anakinra, IL1RA (interleukin1 receptor antagonist), resulting in
clinical improvement and major decrease of pathological fatigue. The aim of the
study was to evaluate changes in cytokine profile and shift of immune cells
estimated by flow cytometric analysis of ECD patient before, during initial stages of
anakinra treatment as well as after treatment ceased in comparison to healthy
donors.METHODS:Singleplex reactions of 19 individual cytokines from serum of
ECD patient were measured by FACS array. Flow cytometric analyses were
performed on peripheral blood cells.RESULTS:The most striking result is
substantial decrease of IL6 immediately after anakinra treatment started
suggesting a major role of IL1 pathway in ECD pathophysiology. As for flow
cytometric analysis, increased number of CD16+ monocytes before treatment is a
new finding.CONCLUSION:Our results suggest that IL6 may be a marker of early
treatment response of ECD patients treated with anakinra
Erdheim-Chester disease is a rare and orphan disease. Despite having been
overlooked previously, numerous new cases have been diagnosed more recently.
The number of Erdheim-Chester disease cases reported has increased
substantially: more than 300 new cases have been published in the past 10 years.
This situation is mainly a result of the generally better awareness among
pathologists, radiologists, and clinicians of various aspects of this rare disease. The
field has been particularly active in the last few years, with evidence of the efficacy
of interferon-α, the description of a systemic pro-inflammatory cytokine signature,
and most recently, reports of the dramatic efficacy of BRAF inhibition in severe,
BRAFV600E mutation-associated cases of Erdheim-Chester disease. Also, BRAF
mutations have been found in more than half of the patients with Erdheim-Chester
disease who were tested. Detailed elucidation of the pathogenesis of the disease is
likely to lead to the development of better targeted and more effective therapies.
We report a 58-year-old man who presented with swelling and redness in his left
eye, headache, and blurred vision. A contrast-enhanced CT of the orbits revealed
bilateral orbital masses. Whole-body PET/CT showed bilateral retrobulbar
hypermetabolic soft tissue lesions, multiple areas of soft tissue involvement, and
osseous lesions in bilateral lower extremities. An open surgical biopsy of the left
orbital mass revealed xanthomatous non-Langerhans histiocytic infiltrate with
Touton giant cells, positive for CD68 but negative for CD1a, establishing a
diagnosis of Erdheim-Chester disease.
12/2/2015
25115717
24878295
24873784
2014
Am Soc Clin
Oncol Educ
Book
Biological and
Therapeutic
Implications of the
BRAF Pathway in
Histiocytic
Disorders
Arceci RJ
Children's Center for
Cancer and Blood
Disorders,
Hematology/Oncology,
Ron Matricaria Institute
of Molecular Medicine,
Phoenix Children's
Hospital, University of
Arizona, College of
Medicine, Phoenix, AZ
2014
May
21
Blood
Consensus
guidelines for the
diagnosis and
clinical
management of
Erdheim-Chester
disease
Diamond EL,
Dagna L, Hyman
DM, Cavalli G,
Janku F,
Estrada-Veras J,
Ferrarini M,
Abdel-Wahab O,
Heaney ML,
Scheel PJ,
Feeley NK,
Ferrero E,
McClain KL,
Vaglio A, Colby
T, Arnaud L,
Haroche J.
Department of
Neurology, Memorial
Center, New York, NY,
United States;
[email protected]
2014
May 7
Mayo Clin Proc.
Erdheim-Chester
Disease:
Characteristics and
Management
Munoz J, Janku
F, Cohen PR,
Kurzrock R
Hematology-Oncology,
Banner MD Anderson
Cancer Center, Gilbert,
AZ. E-mail:
[email protected]
Pg 18 of 139
Langerhans cell histiocytosis (LCH) has historically evolved in its classification from
a primary immune dysregulatory disorder to what current evidence supports as a
dendritic cell neoplasm with an immune-inflammatory component. A key part of the
classification of LCH as a neoplasm has been the identification of BRAF V600E
mutations in 35% to 60% of cases. Tumor protein p53 (TP53) and RAS mutations
have also been identified, albeit in less than 2% of reported cases. Of note, over
50% of patients with another dendritic cell disease, Erdheim-Chester Disease,
have also been shown to have BRAF V600E mutations. Although the BRAF
mutations have not been shown to be associated with extent of disease, they may
still provide a target for a molecularly guided approach to therapy. In cases of LCH
in which no BRAF mutations were identified, there was evidence for activation of
the RAS-RAF-MEK-extracellular signal-regulated kinases (ERK) pathway,
suggesting that similar to other tumors, this pathway may be therapeutically
exploitable. Anecdotal responses have been reported in a few patients with LCH
and Erdheim-Chester Disease to vemurafenib, a BRAF V600E inhibitor. Although
these results pave the way for careful, prospective clinical testing, selection of the
optimal groups in which to test such inhibitors, alone or in combination, will be
critical based on the toxicity profile thus far observed in adults with melanoma and
other BRAF mutated tumors.
Erdheim-Chester Disease (ECD) is a rare non-Langerhans histiocytosis. Recent
findings suggest that ECD is a clonal disorder, marked by recurrent BRAFV600E
mutations in more than 50% of patients, in which chronic uncontrolled inflammation
is an important mediator of disease pathogenesis. Although approximately 500-550
cases have been described in the literature to date, increased physician awareness
has driven a dramatic increase in ECD diagnoses over the last decade. ECD
frequently involves multiple organ systems and has historically lacked effective
therapies. Given the protean clinical manifestations and the lack of a consensusderived approach for the management of ECD, we provide here the first
multidisciplinary consensus guidelines for the clinical management of ECD. These
recommendations were outlined at the First International Medical Symposium for
ECD, comprised of a comprehensive group of international academicians with
expertise in the pathophysiology and therapy of ECD. Detailed recommendations
on the initial clinical, laboratory, and radiographic assessment of ECD patients are
presented in addition to treatment recommendations based on critical appraisal of
the literature and clinical experience. These formalized consensus descriptions will
hopefully facilitate ongoing and future research efforts in this disorder.
Erdheim-Chester disease is a rare CD68+, CD1a- non-Langerhans cell
histiocytosis with multiorgan involvement. The etiology of Erdheim-Chester disease
is unclear; there are no known associated infectious or hereditary genetic
abnormalities. However, somatic BRAF mutations have recently been identified in
these patients. Historically, the literature regarding the management of ErdheimChester disease consisted of case reports and small case series with anecdotal
therapeutic responses to agents including, but not limited to, cytotoxic
chemotherapy, bone marrow transplantation, cladribine, corticosteroids, IFN-α, the
BCR-ABL/KIT inhibitor imatinib mesylate, the IL-1 receptor antagonist anakinra, the
TNF-inhibitor infliximab, and recently the BRAF inhibitor vemurafenib. We
performed a search of the literature using PubMed with the terms Erdheim Chester
disease, without date limitations, including case reports, case series, original
articles, and previous review articles. In the absence of large-scale studies,
experience-based management prevails. The present review details our approach
to the management of patients with Erdheim-Chester disease.
12/2/2015
24857137
24850756
24814521
2014
Apr;30
J Anaesthesiol
Clin Pharmacol.
Erdheim - Chester
disease: Clinical
pearls for the
anesthesiologist
Hariharan U,
Goel AV,
Sharma D.
2014
Apr 27
Urology
Urologic
Manifestations of
Erdheim-Chester
Disease
Yelfimov DA,
Lightner DJ,
Tollefson MK.
2014
Jun 15
Int J Cardiol.
Palazzuoli A,
Mazzei MA,
Ruocco G,
Volterrani L
Department of Medical,
Surgical and Neuro
Sciences, Internal
Medicine Unit
Cardiology Section, Le
Scotte Hospital, Siena,
Italy. E-mail:
[email protected]
2014
Apr 23
Histopathology.
Constrictive
pericarditis in
Erdheim-Chester
disease: An
integrated
echocardiographic
and magnetic
resonance
approach
An NRAS mutation
in a case of
Erdheim Chester
disease
Aitken SJ,
Presneau N,
Tirabosco R,
Amary MF,
O'Donnell P,
Flanagan AM.
Research Department of
Pathology, UCL Cancer
Institute, London, UK;
Sarah
Cannon/University
College London
Advanced Diagnostics
Molecular Profiling
Research Laboratories,
London, UK
Pg 19 of 139
Dr. Uma Hariharan,
Department of OncoAnaesthesia, Rajiv
Gandhi Cancer Institute
and Research Center,
Rohini, New Delhi - 110
085, India. E-mail:
Department of Urology,
Mayo Medical School
and Mayo Clinic,
Rochester, MN.
E-mail:
tollefson.matthew@may
o.edu
n/a
24803787
OBJECTIVE:
To describe the urologic manifestations of Erdheim-Chester disease (ECD). ECD is
a rare multisystem disorder of non-Langerhans cell histiocytosis. In addition to
classic long bone involvement, the retroperitoneum is a well-established site of
disease infiltration. Herein, we present the urologic manifestations and outcomes of
ECD in a large series of patients.
METHODS:
We identified 47 patients diagnosed with ECD between 1996 and 2012 at our
institution. The medical records and imaging for these patients were reviewed for
urologic involvement, including perirenal soft tissue encasement, renal atrophy,
hydronephrosis, chronic renal insufficiency, diabetes insipidus, and lower urinary
tract symptoms.
RESULTS:
At diagnosis, the median patient age was 57 years (interquartile range 49, 68), and
median follow-up after diagnosis was 3 years (interquartile range 1.8, 7.3). There
were 31 male patients (66%) and 16 female patients (34%). The majority of these
patients (37, 79%) demonstrated evidence of urologic involvement from ECD,
requiring urologic surgery in 13 (28%). This urologic involvement included
retroperitoneal infiltration (28, 60%), worsening lower tract urinary symptoms from
diabetes insipidus (21, 45%), hydronephrosis (10, 21%), and chronic kidney
disease (18, 38%).
CONCLUSION:
The incidence of urologic involvement with ECD is higher than previously reported
in the published data. Urologists should be aware of this disorder, as it might mimic
other retroperitoneal diseases and might contribute to lower urinary tract
symptoms, hydronephrosis, renal atrophy, and chronic kidney disease.
Erdheim–Chester disease (ECD) is a rare non-Langerhans histiocytosis affecting
middle-aged adults. The disease is named after the cardiology fellow (William
Chester) and his mentor (Jakob Erdheim) who reported the first two cases in 1930
in Vienna as ‘lipoid granulomatosis’. Its etiology is unknown, and it is characterized
by the proliferation of lipid-containing foamy histiocytes infiltrating bones and
potentially every organs. Histiocytic infiltration leads to xanthogranulomatous
infiltrates of multiple organ systems/
24788188
Erdheim Chester disease (ECD) is a rare, non-Langerhans' cell histiocytic
neoplastic disorder that usually presents in patients in their fifties. ECD often
presents as a multi-system macrophagic infiltration and common sites of
involvement are the central nervous system, cardiovascular system, respiratory
system, retroperitoneum, and skin. Extra-skeletal involvement is usually
responsible for death due to secondary complications and ECD has had until
recently an extremely poor prognosis (vide infra), with less than half of patients
surviving three years.
24754681
12/2/2015
24768396
2014
Apr 23
Mod Rheumatol.
Rapid progression
to cardiac
tamponade in
Erdheim-Chester
disease despite
treatment with
interferon alpha.
Nakhleh A,
Slobodin G,
Elias N, Bejar J,
Odeh M.
2014
Apr 16
J
Neuroophthalm
ol.
Homonymous
Hemianopia Due to
Erdheim-Chester
Disease
2014
Apr 13
Neurologia
Neurological
manifestations in
Erdheim-Chester
disease: Two case
reports
2014
Apr 3
Pediatr
Neurosurg.
Cerebral ErdheimChester Disease
Mimicking HighGrade Glial Tumor:
A Case Report.
Hills WL, Nassef
AH, Grafe MR,
Weissman JL,
Moster SJ,
Falardeau J,
Mardekian SK,
Curtis MT,
Moster ML.
Rouco I,
Arostegui J,
Cánovas A,
González Del
Tánago J,
Fernández I,
Zarranz JJ
Ekşi MS, Demirci
Otluoğlu G, Uyar
Bozkurt S, Sav
A, Bayri Y,
Dağçınar A.
2014
Apr 2
Ann Vasc Surg
Bilateral Renal
Artery Involvement
of Erdheim-Chester
Disease.
Pg 20 of 139
Yaeger AA,
Weaver FA, Woo
K.
Prof. Majed Odeh,
Department of
Pathology, Bnai Zion
Medical Center, Haifa,
Israel. Tel: 972-48358781. Fax: 972-48359790. E-mail:
[email protected]
Department of NeuroOphthalmology (WLH,
JF), Casey Eye Institute,
Oregon Health &
Science University,
Portland, Oregon
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans histiocytosis with
heterogeneous clinical manifestations. The most common presentation is bone
pains typically involving the long bones. Approximately 75% of the patients develop
extraskeletal involvement. Cardiac involvement is seen in up to 45% of the
patients, and although, pericardial involvement is the most common cardiac
pathology of this rare disease, cardiac tamponade due to ECD has been very
rarely reported. We describe a case of a patient found to have ECD with multiorgan involvement and small pericardial effusion, which progressed to cardiac
tamponade despite treatment with interferon alpha.
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis
typically affecting multiple organ systems. We report 2 patients who presented with
homonymous hemianopia and were ultimately diagnosed with biopsy-confirmed
ECD. We review the spectrum of ECD and its treatment as well as
histopathological and immunohistochemical differentiation from other histiocytic
disorders.
24754271
Servicio de Neurología,
Hospital Universitario de
Cruces, Osakidetza,
Baracaldo, Vizcaya,
España
[email protected]
[In Spanish]
24735941
Department of
Neurosurgery, Marmara
University Medical
School, Istanbul, Turkey
Erdheim-Chester disease (ECD) is a non-Langerhans histiocytosis. It may present
in every organ in the body, but isolated central nervous system involvement,
especially a supratentorial intra-axial location, is extremely rare. We present a case
of ECD of supratentorial intra-axial origin and discuss the clinical presentation,
diagnosis and management strategies.
24713668
Division of Vascular
Surgery and
Endovascular Therapy,
Keck School of
Medicine, University of
Southern California, Los
Angeles, CA. Electronic
address:
[email protected]
.edu
To report a rare case of nonatherosclerotic renal artery disease (NARAD) in a
patient with Erdheim-Chester disease (ECD), a non-Langerhans cell histiocytosis.
The patient is a 75-year-old male who presented with 2 years of hypertension
secondary to right renal artery occlusion incidentally found on cardiac
catheterization. Open bilateral renal revascularization was performed because of
improved long-term graft patency demonstrated in other forms of NARAD. Nine
months postoperatively, the patient's hypertension was significantly improved and
surveillance duplex demonstrated patent bilateral renal artery bypasses.
Revascularization in patients with NARAD, such as ECD, should be managed in an
open approach because of the superior long-term graft patency and blood pressure
control in a disease where progression to vessel fibrosis and atherosclerosis could
interfere with endovascular stent patency.
24704054
12/2/2015
24743792
2014
Mar
26
Ann Rheum Dis
An ophthalmologic
diagnostic error
leading to a rare
systemic diagnosis:
Erdheim-Chester
disease
Gilles M, Alberti
N, Seguy C,
Leger F, Frulio
N, Pechmeja J,
Longueville E,
Korobelnik JF.
Service d'ophtalmologie,
centre hospitalier
Pellegrin, place AmélieRaba-Léon, 33000
Bordeaux, France.
Electronic address:
[email protected]
m.
2014
Mar
26
Ann Rheum Dis.
BRAFV600Emutation is
invariably present
and associated to
oncogene-induced
senescence in
Erdheim-Chester
disease.
Cangi MG,
Biavasco R,
Cavalli G,
Grassini G, DalCin E,
Campochiaro C,
Guglielmi B,
Berti A,
Lampasona V,
von Deimling A,
Sabbadini MG,
Ferrarini M,
Doglioni C,
Dagna L.
Unit of Pathology,
IRCCS San Raffaele
Scientific Institute, Milan,
Italy;
[email protected]
Pg 21 of 139
INTRODUCTION:
Erdheim-Chester disease is a rare systemic disease. The diagnosis is difficult due
to significant clinical and morphological polymorphism. Orbital involvement is rare,
but constitutes a classic means of detection.
OBSERVATION:
We report the case of a 60-year-old man, who consulted for evaluation of bilateral
retro-orbital tumors. These tumors had been discovered on head CT two years
previously during work-up of proptosis. Two biopsies were performed. The first one
revealed polymorphous inflammatory tissue. The second one revealed intense
granulomatous reaction, rich in non-specific foamy histiocytes. Thoracic-abdominalpelvic CT scan detected peri-aortic and retroperitoneal infiltration. The association
of these signs pointed to a diagnosis of Erdheim-Chester disease, confirmed by the
re-examination of the histological samples.
DISCUSSION:
Erdheim-Chester disease is a rare non-Langerhans histiocytosis with a specific
tropism for perivascular and fatty connective tissue. The cause is not known. The
diagnosis of this systemic disease is histological.
CONCLUSION:
In the case of bilateral intra-orbital tumors, the diagnosis of Erdheim-Chester
disease must be considered.
OBJECTIVES:
Erdheim-Chester disease (ECD) is a rare form of histiocytosis characterised by
uncontrolled chronic inflammation. The oncogenic BRAFV600E mutation has been
reported in biopsies in 19 out of 37 patients with ECD from the largest published
cohort, but never found in the patients' peripheral blood. Also, the role of the
mutation in the pathogenesis of the disease has not been elucidated yet.
BRAFV600E has been associated with oncogene-induced senescence (OIS), a
protective mechanism against oncogenic events, characterised by the induction of
proinflammatory pathways.
METHODS:
We verified the BRAF status in biopsies and peripheral blood from 18 patients with
ECD from our cohort and matched controls by means of immunohistochemistry and
of an ultrasensitive assay, based on the combination of a locked nucleic acid PCR
and pyrosequencing. Droplet digital PCR was used to confirm the findings. We also
evaluated the presence of senescence markers in ECD histiocytes.
RESULTS:
BRAFV600E mutation was present in all the biopsy and peripheral blood samples
from patients with ECD and in none of the controls. ECD histiocytes and a fraction
of circulating monocytes from patients with ECD showed signs of a constitutive
activation of the MAPK pathway. Moreover, BRAF-mutated histiocytes expressed
markers of OIS.
CONCLUSIONS:
The oncogenic BRAFV600E mutation is present in biopsies and in the peripheral
blood from all patients with ECD who were evaluated and is associated with OIS.
These findings have significant implications for the pathogenesis, diagnosis and
treatment of ECD.
12/2/2015
24674299
24671772
2014
Feb 6
J Clin Neurosci.
Mistaken identity:
Granular cell
astrocytoma
masquerading as
histiocytosis of the
central nervous
system.
Campbell RN,
Liew MS, Gan
HK, Cher L.
2014
Apr
Curr Rheumatol
Rep
Erdheim-chester
disease
Haroche J,
Arnaud L,
Cohen-Aubart F,
Hervier B,
Charlotte F,
Emile JF,
Amoura Z.
Pg 22 of 139
Joint Austin-Ludwig
Oncology Unit, Level 4
Olivia Newton-John
Cancer & Wellness
Centre, Austin Hospital,
145 Studley Road,
Heidelberg, VIC 3084,
Australia; Neurology
Unit, Austin Health, VIC,
Australia. Electronic
address:
[email protected]
Medicine and French
Rare Autoimmune and
Systemic Diseases,
Assistance PubliqueHôpitaux de Paris, PitiéSalpêtrière Hospital,
Paris, France,
Email:
[email protected]
.fr
Granular cell astrocytoma (GCA) is an uncommon malignant glial tumour that is
associated with a poor prognosis. GCA cells have some morphological and
immunohistochemical similarities to macrophages. In this case, a small biopsy
contained no typical astrocytoma and large rounded lesional cells were interpreted
as negative for glial fibrillary acidic protein and S100 and positive for CD68, a
commonly used marker for macrophages. A diagnosis of a histiocytosis was made.
When the patient failed to respond to first and second line therapy, tumour
resection was undertaken and the pathology then showed typical morphologic and
immunohistochemical features of glioblastoma (astrocytoma World Health
Organization grade IV).
24594450
Erdheim-Chester disease (ECD) is a rare (approximately 500 known cases
worldwide), non-inherited, non-Langerhans form of histiocytosis of unknown origin,
first described in 1930. It is characterized by xanthomatous or
xanthogranulomatous infiltration of tissues by foamy histiocytes, "lipid-laden"
macrophages, or histiocytes, surrounded by fibrosis. Diagnosis of ECD involves the
analysis of histiocytes in tissue biopsies: these are typically foamy and CD68+
CD1a- in ECD, whereas in Langerhans cell histiocytosis (LCH) they are CD68+
CD1a+. (99)Technetium bone scintigraphy revealing nearly constant tracer uptake
by the long bones is highly suggestive of ECD, and a "hairy kidney" appearance on
abdominal CT scan is observed in approximately half of ECD cases. Central
nervous system involvement is a strong prognostic factor and an independent
predictor of death in cases of ECD. Optimum initial therapy for ECD seems to be
administration of interferon α (or pegylated interferon α), and prolonged treatment
significantly improves survival; however, tolerance may be poor. Cases of ECD
present with strong systemic immune activation, involving IFNα, IL-1/IL1-RA, IL-6,
IL-12, and MCP-1, consistent with the systemic immune Th-1-oriented disturbance
associated with the disease. More than half of ECD patients carry the BRAF
(V600E) mutation, an activating mutation of the proto-oncogene BRAF. A small
number of patients harboring this mutation and with severe multisystemic and
refractory ECD have been treated with vemurafenib, a BRAF inhibitor, which was
proved very beneficial.
24532298
12/2/2015
2014
Feb
16
Endocrine
Surgical biopsies in
patients with
central diabetes
insipidus and
thickened pituitary
stalks
Jian F, Bian L,
Sun S, Yang J,
Chen X, Chen Y,
Ma Q, Miao F,
Wang W, Ning
G, Sun Q.
Department of
Endocrine and Metabolic
Diseases, Ruijin
Hospital, Shanghai Jiao
Tong University School
of Medicine, Shanghai,
200025, China.
Email:
[email protected]
2014
Feb
16
Jpn J Radiol
Erdheim-Chester
disease with an
18Ffluorodeoxyglucose
-avid breast mass
and BRAF V600E
mutation
Furuta T, Kiryu
S, Yamada H,
Hosoi M,
Kurokawa M,
Morikawa T,
Shibahara J,
Ohtomo K.
2014
Feb
10
Acta
Otorrinolaringol
Esp
Erdheim-Chester
disease in a
sinonasal location
Nazar R, Ortega
G, Miranda G,
Naser A.
2014
Feb 1
Blood Cells Mol
Dis
BRAF - A new
player in
hematological
neoplasms
Machnicki MM,
Stoklosa T.
Department of
Radiology, Research
Hospital, The Institute of
Medical Science, The
University of Tokyo, 4-61, Shirokanedai, Minatoku, Tokyo, 108-8639,
Japan,
Email: [email protected]
Departamento de
Otorrinolaringología,
Hospital Clínico de la
Universidad de Chile,
Santiago de Chile, Chile.
Email:
[email protected]
Department of
Immunology, Medical
University of Warsaw,
Banacha 1A, 02-097
Warsaw, Poland.
Email:
tomasz.stoklosa@wum.
edu.pl
Pg 23 of 139
Thickened pituitary stalks (TPSs) on magnetic resonance imaging (MRI) result from
diverse pathologies; therefore, it is essential to make specific diagnoses for clinical
decision-making. The diagnoses and indications for surgical biopsies in patients
with central diabetes insipidus (CDI) and TPSs are thoroughly discussed in this
paper. Thirty-seven patients with CDI and TPSs were retrospectively reviewed. The
mean age at the diagnosis of CDI was 29.0 ± 15.9 years (range 8.0-63.3), and the
median duration of follow-up was 5.5 ± 2.8 years (range 0.7-13.0). Anterior pituitary
hormone deficiencies were documented in 26 (70.3 %) patients. All patients had a
TPS on MRI at the diagnosis of CDI, and 21 (56.8 %) patients exhibited
radiological changes during the follow-up. Of these 21 patients, 11 exhibited
increases in the thickness of the stalk, and two patients exhibited reversals of the
TPSs. Involvements of the hypothalamus, pituitary gland, basal ganglia or
supersellar, and pineal gland were found in four, three, one, and 1 patient,
respectively. Ultimately, clear diagnoses were established in 17 patients who
underwent biopsies, nine of whom had germinomas, six of whom had Langerhans
cell histiocytosis, one of whom had a granular cell tumor, and one of whom had
Erdheim-Chester disease. Patients with CDI and TPSs should submit to periodic
clinic follow-ups with serial MRI assessments to establish anterior pituitary
deficiencies and to detect radiological progressions that are appropriate for surgical
biopsies. Endoscopic-assisted microsurgery via the supraorbital keyhole approach
is a good choice for the biopsy of pituitary stalk lesions.
Erdheim-Chester disease (ECD) is a non-Langerhans cell histiocytosis. Herein we
report a case of a 49-year-old woman who developed bilateral knee pain. Imaging
procedures revealed multiple long bone lesions and a well-defined 18Ffluorodeoxyglucose-avid mass in the left breast. The breast mass was resected,
and an open biopsy was performed on the right femoral lesion. Both specimens
revealed involvement by histiocytic infiltrates with features suggestive of ECD. The
BRAF V600E mutation was detected by DNA sequencing and
immunohistochemistry.
24532100
Not available.
24524800
BRAF oncogenic kinase has become a target for specific therapy in oncology.
Genetic characterization of a predominant V600E mutation in melanoma, thyroid
cancer, and other tumors became a focus for developing specific inhibitors, such
as vemurafenib or dabrafenib. Our knowledge regarding the role of mutated BRAF
in hematological malignancies has grown quickly as a result of new genetic
techniques such as next-generation sequencing. This review summarizes current
knowledge regarding the role of BRAF in lymphoid and myeloid neoplasms, with a
focus on hairy-cell leukemia, Langerhans cell histiocytosis, and Erdheim-Chester
disease.
24495477
12/2/2015
24531980
2014
Jan 27
Arthritis Care
Res (Hoboken)
New insights in
pathogenesis of
Erdheim-Chester
disease
Bachmeyer C,
Buffo M, Soyez
B.
2014
Jan 27
Arthritis Care
Res (Hoboken)
Vemurafenib in
Erdheim-Chester
disease
Santos-Ortega
A, Arcos-Bertiz
IL, MartinezValle F.
2013
Dec
21
Clin Imaging
Pineal gland
involvement in
Erdheim-Chester
disease detected
on 18F-FDG PETCT imaging: a case
report and review
of literature
Mukherjee A,
Dhull VS,
Karunanithi S,
Sharma P,
Durgapal P,
Kumar R.
2014
Jan 15
Dermatol Online
J
Anakinraresponsive lichen
planus in a woman
with ErdheimChester disease: a
therapeutic enigma
Cohen PR,
Kurzrock R.
Pg 24 of 139
Interne, Hôpital Tenon
(AP-HP), 75020, Paris,
France
Email:
claude.bachmeyer@tnn.
aphp.fr
Research Unit in
Systemic Autoimmune
Diseases, Internal
Medicine Department,
Cardiology Department,
Vall D'hebron Hospital,
Barcelona, Spain
Email:
ferranmartinezvalle@gm
ail.com
Department of Nuclear
Medicine, All India
Institute of Medical
Sciences, New Delhi,
India
Email:
[email protected]
University of California
San Diego
3855 Health Sciences
Drive, #3069
La Jolla, CA 92093
USA
Not available.
24469999
Not available.
24469977
Erdheim-Chester disease (ECD) is a rare non-Langerhan's cell histiocytosis
affecting multiple organ systems. The most common systemic manifestations are
bone lesions, infiltration of the pituitary stalk sometimes leading to diabetes
insipidus, pulmonary fibrosis, cardiac failure and exophthalmus. Neurological
symptoms as the first clinical manifestations of ECD have been reported in less
than one third of cases. We report a rare presentation of a patient of ECD on 18Ffluorodeoxyglucose (18F-FDG) positron emission tomography-computed
tomography which revealed abnormal 18F-FDG accumulation in the region of
pineal gland, pericardium and bilateral distal tibiae.
Background: Anakinra is a recombinant form of interleukin-1 receptor antagonist. It
is the drug of choice for Schnitzler syndrome and cryopyrin-associated periodic
syndromes. It has also recently been demonstrated to have activity in the treatment
of the non-Langerhans cell histiocytosis known as Erdheim-Chester disease.
Purpose: To describe the activity of anakinra in a patient with co-existing lichen
planus and Erdheim-Chester disease. Methods: A 43-year-old woman with
progressive Erdheim-Chester disease presented for management of her night
sweats and chills, systemic skeletal bone pain, and neurologic (diabetes insipidus)
manifestations. She also had widespread cutaneous lichen planus. Anakinra, 100
mg subcutaneously daily, was initiated for the treatment of her Erdheim-Chester
disease. Results: Within 2 days of starting anakinra, there was prompt resolution of
her Erdheim-Chester disease-related symptoms. Subsequently, her bone pain
resolved and her diabetes insipidus improved. Also, the lichen planus-associated
pruritus rapidly ceased and most of the skin lesions improved. Conclusions: Our
experience confirms the efficacy of anakinra for the treatment of Erdheim-Chester
disease. The concomitant improvement of her lichen planus on anakinra suggests
that this agent warrants additional study in this disorder.
24461468
12/2/2015
24456945
2014
Jan
Intern Med J
Successful
treatment of
Erdheim-Chester
disease with
combination of
interleukin-1targeting drugs and
high-dose
glucocorticoids
Darstein F,
Kirschey S,
Heckl S,
Rahman F,
Schwarting A,
Schuchmann M,
Galle PR,
Zimmermann T.
Tim Zimmermann,
Universitätsmedizin
Mainz,
Langenbeckstraße 1,
Mainz 55131, Germany.
Email:
tim.zimmermann@unim
edizin-mainz.de
2014
Jan 14
Clin Exp
Rheumatol
Imaging in
Erdheim-Chester
disease: classic
features and new
insights
Moulis G, Sailler
L, Bonneville F,
Wagner T.
Internal Medicine
Department, Toulouse
University Hospital,
UMR INSERM-UPS
1027, University of
Toulouse, Toulouse,
France.
[email protected]
2013
NovDec
G Ital Nefrol
Renal involvement
in erdheim-chester
disease
Li Cavoli G,
Bono L, Tortorici
C, Ferrantelli A,
Zagarrigo C,
Servillo F,
Giammarresi C,
Tralongo A,
Schillaci O,
Coglitore M,
Rotolo U.
Department of
Nephrology and
Dialysis, Civic and Di
Cristina Hospital,
Palermo, Italy
2013
Dec
24
Skeletal Radiol
Erdheim-Chester
disease: An
unusual
presentation of an
uncommon disease
Bindra J, Lam A,
Lamba R,
Vanness M,
Boutin RD.
Department of
Radiology, University of
California, Davis, School
of Medicine,
Sacramento, CA, USA,
[email protected]
cdavis.edu
Pg 25 of 139
Erdheim-Chester disease (ECD) is a rare histocytic disorder. We report a case of a
45-year-old male ECD patient with severe clinical manifestation (urinary obstruction
due to retroperitoneal mass with hydronephrosis, involvement of long bones) and
central nervous system involvement (hemiparesis, aphasia and diabetes insipidus).
Diagnosis was confirmed by typical clinical, radiological and histological findings.
Under immunosuppressive therapy with prednisolone and interleukin-1A receptor
antagonist (Anakinra, Kineret, Swedish Orphan Biovitrum AB, Stockholm,
Sweden), a rapid improvement of the patients' symptoms and condition was
observed. This is the first report of a successful combination therapy of Anakinra
and glucocorticoids. Furthermore, current literature about ECD and treatment
options are discussed.
Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis. Osseous
involvement is the most frequent feature with bilateral and symmetric osteosclerotic
changes in long bone diaphyseal and metaphyseal regions, classically sparing
epiphyses. 99mTc scintigraphy shows bilateral and symmetrical metaphysal and
diaphyseal increased uptake in almost all the patients, even asymptomatic. Other
classical features on CT-scan, very evocative of Erdheim-Chester disease, must be
recognised: e.g. 'coated' aorta, 'hairy kidney' patterns. New imaging techniques
such as MRI have led to a better description of cardiac and central nervous system
involvements. Pachymeningitis and right atrium wall infiltration are new evocative
images of this disease. Fluorodeoxyglucose Positron Emission Tomography in the
diagnosis or prognosis assessment is still discussed. The objective of this review is
to discuss the place of each imaging technique in Erdheim-Chester disease in
2013.
The Erdheim-Chester disease is a rare form of Langherans cells. Since 1987 it is
distinguished from other istiocytosis previously identified. The diagnosis of the
disease relies on defined radiological (bone imaging) and pathological (histiocytic
infiltration) criteria. Bone disease is crucial but systemic manifestations are
reported more frequently at onset. Renal involvement is always asymptomatic at
onset of disease or in the follow-up. In this review we analyze the reports of the
literature; we highlight 3 pathological mechanisms of renal involvement: renal and
retroperitoneal infiltration, urinary tract obstruction, renal arteries stenosis. No
treatment to date has demonstrated an improvement in survival of patients with
EC. Renal involvement is therefore symptomatic (ureteral stenting, percutaneous
nephrostomy) or is adopted a wait-and-see attitude. [Article in Italian.]
Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis with
classic radiographic findings of patchy or diffuse osteosclerosis predominantly
involving the long bones in a bilaterally symmetrical pattern. A 49-year-old woman
presented with diffuse lymphadenopathy, painful skin lesions, and constitutional
symptoms. Recent history was significant for a nontraumatic fracture of the tibia 3
weeks prior to admission. Physical examination and laboratory studies were
notable for lower extremity pain and swelling, nodular lesions on the skin, and
normocytic, normochromic anemia. Plain radiographs showed a lytic pattern of
destruction with a superimposed fracture in the left proximal tibia. MRI showed
focal bone marrow replacement extending from the subchondral bone to the tibial
diaphysis. Excisional lymph node and skin biopsies of the lesions demonstrated a
CD-68 positive, S-100 variable, and CD1a-negative histiocytic cell proliferation
filling the dermis and completely replacing the sampled lymph node with an
accompanying chronic inflammatory infiltrate and fibrosis, pathognomonic for ECD.
We report an unusual case of ECD presenting initially as diffuse, painful
lymphadenopathy, and subsequently demonstrating a lytic lesion of the tibia
underlying a nontraumatic fracture.
12/2/2015
24450524
24428974
24402664
24366632
2013
SepOct
Tumori
Salvage
lenalidomide in four
rare oncological
diseases
Szturz P, Adam
Z, Rehak Z,
Koukalova R,
Kren L, Moulis
M, Krejcí M,
Mayer J.
Petr Szturz, MD, PhD,
Medicine, Hematology
and Oncology,
University Hospital Brno,
Jihlavská 20, 625 00
Brno, Czech Republic.
Tel +420-5-32232934;
fax +420-5-32233603;
email
[email protected]
2013
Dec
Recenti Prog
Med
Cardiovascular
involvement in
Erdheim-Chester
syndrome: clinical
and therapeutic
implications
Lauretta L,
Dagna L, Alberti
L, Loiacono F,
De Cobelli F,
Sanvito F,
Moriggia S,
Margonato A,
Fragasso G.
Cardio-ThoracicVascular Department,
Institute, Milan, Italy
email:
[email protected]
2013
OctDec
J Postgrad Med
Erdheim-Chester
disease: A clinical
and radiological
masquerade
Wadhwa V,
Marcus RW,
Carrino JA,
Chhabra A.
The Russell H. Morgan
Department of
Radiology and
Radiological Science,
Johns Hopkins
University School of
Medicine, Baltimore
Pg 26 of 139
In rare disorders, there are often no standard therapy recommendations. Patients
with refractory disease may require novel experimental approaches. Applied as
second- up to fourth-line treatment, lenalidomide (10-25 mg perorally on days 1-21
in a 28-day cycle) was used in our cohort of four adult patients with aggressive,
multisystem and relapsing diseases. Complete and long-lasting remissions (more
than 1 year, no maintenance therapy) were achieved in patients with Langerhans
cell histiocytosis (11 cycles, combination with dexamethasone and etoposide,
consolidated by allogeneic blood stem cell transplant) and plasma-cell Castleman
disease (15 cycles, monotherapy). Mixed response with complete disappearance
of brain infiltrates was reached in Erdheim-Chester disease (6 cycles,
monotherapy) and gastrointestinal bleeding was well controlled in multiple
angiomatosis (9 cycles, combination with thalidomide). For disease activity
evaluation each patient underwent fluorine-18-fluorodeoxyglucose positron
emission tomography/computed tomography scan imaging, which was
complemented by clinical and laboratory investigations.
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans' cell histiocytosis
of unknown etiology and its incidence is constantly increasing. ECD is
characterized by a xantomatous or xanthogranulomatous infiltration of various
tissues by foamy histiocytes surrounded by fibrosis. ECD is characterized by multiorgan involvement and is generally associated with a poor prognosis with a median
survival of 32 months after diagnosis. Cardiovascular involvement concerns mainly
the thoraco-abdominal aorta and pericardium. Less frequently, infiltration affects
the myocardial tissue, especially the right atrium, and the valvular endocardium.
Recently, the involvement of the vena cava has also been described. The
diagnosis of ECD is made by the identification of foamy histiocytes CD68 positive
and CD1a/S100 negative embedded in a polymorphic inflammatory tissue on
biopsy. Despite the adoption of several therapeutic strategies until now prognosis
has remained poor. Interferon-α can be considered the first line therapy, but its
effects on central nervous system and cardiovascular localization have been
shown to be often poor. In this context a combined treatment with the anti-TNFα
monoclonal antibody infliximab and methotrexate seems to be effective and well
tolerated.
No abstract available.
12/2/2015
24362880
24362833
24346395
2013
Dec 3
Endocr J
Erdheim-Chester
disease and
pituitary
involvement: a
unique case and
the literature
Manaka K,
Makita N, Iiri T.
Department of
Endocrinology and
Nephrology, The
University of Tokyo
School of Medicine,
Tokyo 113-8655 Japan
E-mail: [email protected]
2013
Nov
Informa
Healthcare
Strategies and
treatment
alternatives in the
management of
Erdheim–Chester
disease
Roei David
Mazor, Mirra
ManevichMazor, &
Yehuda
Shoenfeld
Yehuda Shoenfeld
Sheba Medical Center,
Tel Hashomer, Israel;
[email protected]
2013
Nov
15
Scand J Infect
Dis
Erdheim-Chester
disease: A rare
cause of recurrent
fever of unknown
origin mimicking
lymphoma
Mariampillai A,
Sivapiragasam
A, Kumar A,
Hindenburg A,
Cunha BA, Zhou
J
B. A. Cunha, Infectious
Disease Division,
Winthrop-University
Hospital,
Mineola, NY 11501;
[email protected]
Pg 27 of 139
An early thirties man diagnosed with Erdheim-Chester disease (ECD) was
simultaneously disclosed to have hypogonadotropic hypogonadism, central adrenal
insufficiency, and GH deficiency in addition to central diabetes insipidus (CDI).
Pituitary magnetic resonance imaging (MRI) showed swelling in the stalk,
enlargement of the anterior lobe with delayed enhancement, and loss of high
intensity of the posterior lobe on T1-weighted images, suggesting of pituitary
involvement of ECD. Three months after starting treatment with interferon α and
zoledronic acid, polyuria and polydipsia were ameliorated without DDAVP,
accompanied with improvement of MRI. Simultaneously technetium-99m bone
scintigraphy showed improvement, accompanied with a relief of bone pain and high
fever. In contrast, he developed secondary hypothyroidism with slight enlargement
of anterior pituitary gland without relapse of CDI, suggesting of different responses
to treatment with interferon α between anterior pituitary lobe and posterior one. So
far he continues to be replaced with deficient hormone replacement therapy. As for
bone pain, it remains to be controlled with the decreased levels of bone resorption
marker with decreased abnormal uptake in bone scintigraphy although zoledronic
acid was discontinued for osteonecrosis of the jaw. For four years, he has not
showed new involvement at other organs besides bones and the pituitary. While
CDI is known to be very common in ECD, improvement of CDI has been reported
in a few cases. Other endocrine manifestations, especially with detailed endocrine
status, have been also reported in limited cases. Thus we report this case and
review the literature.
Introduction: The treatment of Erdheim–Chester disease (ECD) remains a
challenging task. Current opinion corroborates interferon-α as the first-line
treatment. Several second-line treatments exist for patients who advance on or
who do not tolerate interferon-α. Among them are vemurafenib, anakinra, infliximab
and cladribine.
Areas covered: A systematic search of PubMed was employed to identify all the
articles relating to the treatment of ECD. The quintessential facts are as follows:
Interferon-α increases survival among ECD patients at dosages of as low as 3 ×
106 IU × 3/week. Nevertheless, the more resilient cardiovascular and central
nervous system (CNS) disease foci necessitate dosage regimens of as high as 9 ×
106 IU × 3/week. Anakinra, administered at dosages of 1 – 2 mg/kg/day, should be
reserved for patients with mild disease. Infliximab, administered at a dosage of 5
mg/kg/6 weeks induced regression of ECD-related cardiovascular lesions.
Vemurafenib, administered at a dosage of 960 mg/day, induced remarkable
improvement in the symptoms, CRP levels and PET findings of patients harboring
the V600E BRAF mutation. Cladribine may be effective administered at dosages of
0.07 – 0.14 mg/kg/day for five consecutive days. However, it should be reserved
for patients with moderate–to-severe disease who failed on or who are not
candidates for other second-line treatments.
Expert opinion: Recent advancements in the recognition of biological targets
imbued the therapeutic repertoire of ECD with novel personally tailored treatments.
As the zealous hunt for future remedies persists, one must always remember that
the success of an ongoing treatment is congruent with an assured, well-informed
patient.
We report the case of a patient with recurrent fever of unknown origin (FUO) with
prominent back pain, hepatosplenomegaly, and abdominal/pelvic adenopathy
suggesting lymphoma. A bone biopsy showed histiocytic infiltration. Studies for
lymphoma were negative, but immunohistochemical stains were diagnostic of
Erdheim-Chester disease (ECD). ECD should be included as a rare cause of
recurrent FUO with bone involvement.
12/2/2015
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24228820
2013
Oct 7
J Clin
Ultrasound.
Virtual CT
sonographically
guided biopsy of a
retroperitoneal
mass in a patient
with ErdheimChester disease
Tombesi P, Di
Vece F, Rinaldi
R, Ermili F,
Sartori S.
Section of Interventional
Ultrasound, Department
of Internal Medicine, St.
Anna Hospital, Ferrara,
Italy.
2013
Oct
Hong Kong Med
J
Erdheim-Chester
disease: an
uncommon cause
of upper urinary
tract obstruction
Tsu JH, Yuen
SK, Cheung H,
Lee YW, Liu PL.
Department of Surgery,
Caritas Medical Centre,
111 Wing Hong Street,
Shamshuipo, Kowloon,
Hong Kong;
[email protected]
2013
Adv Immunol
Pathological
consequence of
misguided dendritic
cell differentiation
in histiocytic
diseases
Berres ML, Allen
CE, Merad M.
Department of
Oncological Sciences,
Icahn School of
Medicine at Mount Sinai,
New York, USA; Tisch
Cancer Institute;
Immunology Institute;
[email protected]
u
2013
Oct
Int J Hematol
Erdheim-Chester
disease and
Schnitzler
syndrome: so near,
and yet so far
Szturz Petr,
Hlavatý L,
Prášek J,
Dvořáková D.
2013
Bulletin of the
Hospital for
Joint Diseases
Erdheim-Chester
disease--clinical
pathological case
discussion
Rivera TL, Irish
RD, Hoda SA,
Steiner GC,
Rackoff PJ,
Fischer HD
Medicine, Hematology
and Oncology, School of
Medicine, University
Hospital Brno and
Masaryk University,
Jihlavská 20, 625 00,
Brno, Czech Republic,
[email protected]
Tania L. Rivera, M.D.,
Division of
Rheumatology, Beth
Israel Medical Center,
University
Hospital for the Albert
Einstein College of
Medicine, 350 East 17th
Street, Baird Hall Suite
20BH54, New York,
New York 10003;
[email protected]
Pg 28 of 139
Image fusion between sonography and CT allows real-time synchronization of CT
multiplanar reconstructed images with the corresponding sonographic images. This
technique has mainly been used in liver imaging. We report the use of image fusion
to target and successfully guide the percutaneous biopsy of a retroperitoneal a
mass. This technique represents a promising tool in abdominal imaging, and it
should be considered for the biopsy of lesions that are difficult to approach with
conventional imaging guidance techniques. © 2013 Wiley Periodicals, Inc. J Clin
Ultrasound, 2013;
Erdheim-Chester disease is a rare non-Langerhans form of systemic histiocytosis
of unknown origin. We describe a 45-year-old man presenting with bilateral
hydronephrosis suggestive of extrinsic urinary tract obstruction. Computed
tomography revealed extensive hypodense soft tissue infiltration in the
retroperitoneum surrounding the kidneys. Needle biopsy of the retroperitoneal soft
tissue revealed aggregates of lipid-laden histiocytes expressing CD68 but negative
for CD1a and S100 protein. The diagnosis of Erdheim-Chester disease was
supported by typical radionuclide bone scinitigraphic findings. Treatment with
prednisolone, sirolimus, and regular ureteric stent revision was initiated to achieve
adequate urinary tract drainage. To our knowledge, this is the second patient with
Erdheim-Chester disease reported in Hong Kong. A high index of suspicion is
required to avoid delay in the diagnosis of this rare disease.
Histiocytic disorders represent a group of complex pathologies characterized by the
accumulation of histiocytes, an old term for tissue-resident macrophages and
dendritic cells. Langerhans cell histiocytosis is the most frequent of histiocytosis in
humans and has been thought to arise from the abnormal accumulation of
epidermal dendritic cells called Langerhans cells. In this chapter, we discuss the
origin and differentiation of Langerhans cells and dendritic cells and present
accumulated evidence that suggests that Langerhans cell histiocytosis does not
result from abnormal Langerhans cell homeostasis but rather is a consequence of
misguided differentiation programs of myeloid dendritic cell precursors. We
propose reclassification of Langerhans cell histiocytosis, juvenile xanthogranuloma,
and Erdheim-Chester disease as inflammatory myeloid neoplasias.
24123060
(See http://www.ncbi.nlm.nih.gov/corehtml/query/egifs/http:-www.nyuhjdbulletin.org-icon.jpg for a the full article.)
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24070383
24046179
2013
Sept 8
Orphanet
Journal of Rare
Diseases
Erdheim-Chester
Disease: a
comprehensive
review of the
literature
Roei D Mazor,
Mirra ManevichMazor, Yehuda
Shoenfeld
The Laura Schwarz-Kipp
Chair for Research of
Autoimmune Diseases,
Tel-Aviv University, TelAviv, Israel
[email protected],
[email protected]
om,
[email protected]
2013
Aug
13
Joint Bone
Spine
Successful
treatment of
Erdheim-Chester
disease by
interleukin-1
receptor antagonist
protein
Courcoul A,
Vignot E,
Chapurlat R.
2013
Aug 8
Blood
Detection of an
NRAS mutation in
Erdheim-Chester
disease
2013
Jul 26
Rheumatology
(Oxford)
TNF-α in ErdheimChester disease
pericardial effusion
promotes
endothelial leakage
in vitro and is
neutralized by
infliximab
Diamond EL,
Abdel-Wahab O,
Pentsova E,
Borsu L, Chiu A,
Teruya-Feldstein
J, Hyman DM,
Rosenblum M.
Ferrero E,
Belloni D, Corti
A, Doglioni C,
Dagna L,
Ferrarini M.
ferrero.elisabetta
@hsr.it
Inserm UMR1033,
université de Lyon,
Hospices Civils de Lyon,
Department of
rheumatology, Pavillon
F, hospital EdouardHerriot, 5, place
d'Arsonval, 69003 Lyon,
France
[email protected]
Department of
Neurology, Memorial
Center, New York, NY
[email protected]
Pg 29 of 139
Institute, Milan, Italy and
Vita-Salute San Raffaele
University, Milan, Italy
Erdheim-Chester Disease (ECD) is a rare form of non Langerhans' cell
histiocytosis. Individuals affected by this disease are typically adults between their
5th and 7th decades of life. Males and females are almost equally affected. The
multi systemic form of ECD is associated with significant morbidity, which may
arise due to histiocytic infiltration of critical organ systems. Among the more
common sites of involvement are the skeleton, central nervous system,
cardiovascular system, lungs, kidneys (retroperitoneum) and skin. The most
common presenting symptom of ECD is bone pain. The etiology of ECD is
unknown yet thought to be associated with an intense TH1 immune response. It
may also be associated with the V600E BRAF mutation, as described in as many
as half of the patients in recent studies. Bilateral symmetric increased tracer uptake
on 99mTc bone scintigraphy affecting the periarticular regions of the long bones is
highly suggestive of ECD. However, definite diagnosis of ECD is established only
once CD68(+), CD1a(−) histiocytes are identified within a biopsy specimen. At
present, this obscure ailment embodies numerous challenges to medical science.
Given its rarity, it is diagnostically elusive and requires a high level of clinical
suspicion. Therapeutically, it is of limited alternatives. Currently, interferon-α is the
most extensively studied agent in the treatment of ECD and serves as the first line
of treatment. Treatment with other agents is based on anecdotal case reports and
on the basis of biological rationale. Nevertheless, cladribine (2CDA), anakinra and
vemurafenib are currently advocated as promising second line treatments for
patients whose response to interferon α is unsatisfactory. Overall, the 5 year
survival of ECD is 68%. Herein, the authors mustered and brought about a
panoramic consolidation of all the relevant facts regarding ECD. This work
highlights the different clinical, radiological and pathological manifestations
associated with ECD, the differential diagnoses, the various treatment options and
the acknowledged science explaining the disease.
Erdheim-Chester disease is a rare non-langerhans systemic histiocytosis of
unknown origin, associated with bone diseases and severe visceral complications.
Therapies have been disappointing. A recombinant form of interleukin-1 receptor
antagonist (anakinra) has been used in a few cases when usual treatment fails. We
report a new case of successfully interleukin-1 receptor antagonist treatment in
Erdheim-Chester disease.
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12/2/2015
23953221
2013
Jul
Neurology
Teaching
NeuroImages:
Ataxia and diabetes
insipidus
Lefaucheur R,
Maltête D,
Haroche J,
Borden A,
Wallon D, Bourre
B.
2013
Jun
J Am Acad
Dermatol
Diabetes insipidus,
bone lesions, and
new-onset redbrown papules in a
42-year-old man
Kornik RI, Naik
HB, Lee CC,
Estrada-Veras J,
Gahl WA,
Cowen EW.
2013
Jun 21
Dig Liver Dis.
Tsynman DN,
Weaver C,
Taboada S,
Findeis-Hosey J,
Maliakkal B,
Huang J.
2012
Nov
West Indian
Med J.
Portal hypertension
and ascites
secondary to
Erdheim Chester
Disease without
intrinsic liver
involvement on
liver biopsy
Erdheim-Chester
disease in a child
2013
May 6
Int J Cardiol
Erdheim-Chester
disease with
cardiac
involvement
successfully treated
with anakinra
Killu AM, Liang
JJ, Jaffe AS
Pg 30 of 139
Wen C, Liang Q,
Yi Z, Wan W.
Department of
Neurology, Rouen
University Hospital and
University of Rouen,
Rouen; Assistance
Publique-Hôpitaux de
Paris, Pitié-Salpêtriére
Hospital, Paris, France
[email protected]
Dermatology Branch,
Center for Cancer
Research, National
Cancer Institute,
National Institutes of
Health, Bethesda,
Maryland 20892, USA;
Juvianee.EstradaVeras
@nih.gov
University of Rochester,
Department of
Gastroenterology and
Hepatology, United
States. Electronic
address:
Donald_Tsynman@UR
MC.Rochester.edu
Department of
Paediatrics, Xiangya
Second Hospital of
Central South
University, Changsha
City, China.
[email protected]
n
Department of internal
Medicine, Mayo Clinic,
Rochester, MN, USA.
Electronic address:
[email protected]
A 63-year-old woman presented with recent cerebellar ataxia. Diabetes insipidus
had been diagnosed 35 years earlier. Brain MRI showed fluid-attenuated inversion
recovery hyperintensities involving cerebellar peduncles and pons, with punctiform
gadolinium enhancement on T1 sequences (figure, A). Leg X-rays revealed cortical
osteosclerosis of both tibias (figure, B). Tibia biopsy revealed bone remodeling
associated with bone marrow fibrosis and lymphohistiocytic reaction confirming the
diagnosis of Erdheim-Chester disease (ECD).
23858417
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23796550
Erdheim-Chester disease (ECD) is a rare systemic non-Langerhans histiocytosis
that affects multiple organ systems. It occurs more often in adults, and paediatric
ECD is extremely rare. The diagnosis of ECD can be established based on clinical
presentations and imaging but the final diagnosis should be based on biopsy.
Treatment of ECD has involved the use of corticosteroids, radiotherapy,
chemotherapy, surgery and haematopoietic stem cell transplantation, yet the
efficacy of these treatments is difficult to determine. At present, it is thought that the
treatment of interferon-alpha (IFN-alpha) is safe and effective for ECD. Herein, we
report on an 11-year old girl who was admitted to hospital because of systemic
bone pain and limping, and the final diagnosis of ECD was based on evidence
provided by her clinical presentation, imaging and biopsy of a lesion of the right
ilium. The patient was treated with subcutaneous IFN-alpha at a dosage of 3 x
10(6) units three times weekly for 19 months. We thought that the treatment of IFNalpha was safe and effective for the girl's clinical manifestations, and IFN-alpha
might be a valuable first-line therapy for paediatric ECD.
23757907
12/2/2015
23659884
2013
May 1
Clin Nucl Med
FDG PET Images
in a Patient With
Erdheim-Chester
Disease
Sioka, Chrissa
MD; EstradaVeras, Juvianee
MD; Maric, Irinia
MD; Gahl,
William A. MD;
Chen, Clara C.
MD
2013
Apr 18
Clin Nucl Med
18F-Fluoride
PET/CT Aspect of
an Unusual Case of
Erdheim-Chester
Disease With
Histologic Features
of Langerhans Cell
Histiocytosis
2013
May
Rheum Dis Clin
North Am.
Erdheim-chester
disease
Caoduro, Cécile;
Ungureanu,
Constantin
Marius;
Rudenko, Boris;
Angoue, Orland;
Blagosklonov,
Oleg; Paycha,
Frédéric;
Boulahdour,
Hatem
Haroche J,
Arnaud L,
Cohen-Aubart F,
Hervier B,
Charlotte F,
Emile JF,
Amoura Z.
2013
Apr 15
BMJ Case Rep.
Erdheim-Chester
disease with
isolated
craniocerebral
involvement
Pg 31 of 139
Jain RS,
Sannegowda
RB, Jain R,
Mathur T.
Juvianee Estrada-Veras,
MD, National Human
Genome Research
Institute, National
Institutes of Health
10 Center Drive, Bldg
10, CRC- Room 3-2551
Bethesda, MD 208921851
juvianee.estradaveras@
nih.gov
Oleg Blagosklonov,
Nucléaire, CHU Jean
Minjoz, 3 bv. Fleming,
25030 Besançon,
France. E-mail:
oleg.blagosklonov@univ
-fcomte.fr
Medicine, French
Rare Autoimmune and
Systemic Diseases,
Assistance PubliqueHôpitaux de Paris, PitiéSalpêtrière Hospital, 4783 boulevard de
l'Hôpital, 75651 Paris
Cedex 13, France;
Université Pierre et
Marie Curie, UPMC Univ
Paris, Paris, France.
Electronic address:
[email protected]
.fr
Department of
Neurology, SMS Medical
College Hospital, Jaipur,
Rajasthan, India.
[email protected],
[email protected]
om
Erdheim-Chester disease is an uncommon non-Langerhans-cell histiocytosis, due
to excessive production of histiocytes deposited in various organs and tissues in
the human body. FDG PET was performed in a 68-year-old man with documented
active Erdheim-Chester disease to evaluate the extent of the disease. The patient
was previously treated with high-dose subcutaneous Interferon [alpha]2b,
1,000,000 units 3 times a week, but treatment was interrupted approximately 5
weeks before evaluation at the National Institutes of Health because of adverse
effects of the medication. FDG PET/CT showed lesions were imaged in brain,
heart, mediastinum, abdomen, and skeleton.
We report the case of a 63-year-old woman with Erdheim-Chester disease (ECD)
and histologic features of Langerhans cell histiocytosis, both extremely rare
histiocytic proliferations responsible of skeletal and extraskeletal involvement. FFluoride PET/CT revealed multiple intense focal uptake scattered throughout the
skeleton. We also performed an F-FDG PET/CT which point out visceral and
vascular involvement. This case illustrates the interest of PET/CT in ECD, a rare
polymorphus and systemic disease, and in our knowledge, this is the first reported
illustration of F-fluoride PET/CT findings in this pathology.
23603579
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans' cell
histiocytosis. Diagnosis of ECD is based on the identification in tissue biopsy of
histiocytes, which are typically foamy and immunostain for CD68+ CD1a-. Central
nervous system involvement is a major prognostic factor in ECD. Interferon alpha
may be the best first-line therapy and significantly improves survival of ECD. The
BRAFV600E mutation is found in more than 50% of cases. Vemurafenib has been
used for a small number of patients harbouring this mutation; inhibition of BRAF
activation by vemurafenib was highly beneficial in these cases of severe
multisystemic and refractory ECD.
23597965
Erdheim-Chester disease (ECD) is a rare non-Langerhans form of histiocytosis with
distinctive radiographic and pathological features. Intracranial involvement is
further a rarity, usually producing diabetes insipidus or cerebellar-brainstem
symptoms. We report a 40-year-old man presenting with recurrent secondarily
generalised seizures. An MRI scan of the brain revealed multiple enhancing
intracranial masses in frontal, temporal and parietal regions. Biopsy from the left
frontotemporal lesion confirmed it to be a rare case of ECD. The patient received a
short course of corticosteroids initially and subsequently remained well-controlled
on antiepileptic therapy alone. A repeat MRI of his brain showed significant
resolution of lesions. Osteolytic lesions in the skull vault were detected during
follow-up which also disappeared. Interestingly, there was no involvement of long
bones or any other system even after 12 years of follow-up.
23592809
12/2/2015
2013
Apr 16
Ann Rheum Dis
Diagnosing
Erdheim-Chester
disease
Cavalli G, Berti
A, Campochiaro
C, Dagna L.
2013
Mar
16
Ann Rheum Dis
Erdheim-Chester
disease
Juanós-Iborra M,
Solanich-Moreno
J, SelvaO'Callaghan A.
2013
Mar
Clin Imaging
Sharma M,
Vettiyil B, Bartlett
E, Yu E
2013
Feb
26
Med Clin (Barc)
Suprasellar nonLangerhans cell
histiocytosis
(Erdheim-Chester
disease)-a case
report.
Erdheim-Chester
disease: Report of
a case with
retroperitoneal
involvement treated
with interferon
alpha-2a
2013
Feb
28
Diagn
Cytopathol
Erdheim-Chester
Disease With
Prominent
Pericardial
Effusion: Cytologic
Findings and
Review of the
Literature
Alexiev BA,
Staats PN
2013
Feb
19
Diagn Interv
Imaging
Erdheim-Chester
disease: A rare
diagnosis with
evocative imaging
Alberti N, Frulio
N, Bertolotti A,
Petitpierre F,
Veron A, Perez
JT, Raffray L,
Vanquaetem H,
Salut C, Pinaquy
JB, Trillaud H
Pg 32 of 139
Gil Ortega M,
López Lozano E,
Girela Baena E,
Navarro
Martinez N
Unit of Medicine and
University and San
Raffaele Scientific
Institute, Milan, Italy
[email protected]
Internal Medicine
Department, Vall
d'Hebron General
Hospital, Universitat
Autonoma de Barcelona,
Barcelona, Spain
Head and Neck Imaging,
Princess Margaret
Hospital, Toronto M5G
2M9. Electronic address:
drmanassharma@gmail.
com
Departamento de
Medicina Interna,
Hospital Morales
Meseguer, Murcia,
España. Electronic
address:
milagros.gilortega@gma
il.com
Borislav A. Alexiev,
M.D., Department of
Pathology, NBW85,
University of Maryland
Medical Center, 22 S
Greene Street,
Baltimore 21201, MD.
E-mail:
[email protected]
Service de radiologie,
hôpital Saint-André, 1,
rue Burguet, 33075
Bordeaux, France.
Electronic address:
[email protected]
23592711
23505236
Erdheim-Chester disease (ECD) is an uncommon non-Langerhans cell
histiocytosis that affects multiple body systems and can present clinically in a
myriad of ways. An adult onset is most common with bony involvement and
constitutional symptoms. We report the case of a 52-year-old female presenting
with diabetes insipidus and a suprasellar mass on imaging, with no evidence of
extracerebral involvement. Histopathology was consistent with ECD.
Spanish. No abstract available.
23465991
Erdheim-Chester disease (ECD) is a rare, non-Langerhans form of histiocytosis of
unknown origin with distinct clinicopathologic and radiographic features. Reports
detailing the cytology of ECD are rare. We describe a case of ECD with pericardial
effusion. Cytologic examination revealed a hypercellular specimen composed of
clusters and singly dispersed foamy macrophages with round nuclei and
inconspicuous nucleoli, admixed with lymphocytes, eosinophils, and Touton-type
multinucleated giant cells. Immunostains for CD68 were strongly positive in the
foamy macrophages while S100 and CD1a were negative. The presence of foamy
histiocytes, multinucleated giant cells, lymphocytes and eosinophils are also
features of other systemic histiocytic disorders, including Langerhans cell
histiocytosis (LCH), Rosai-Dorfman disease (RDD) and sarcoidosis. To the best of
out knowledge, this is the first report describing the cytological features of ECD in a
pericardial effusion.
No abstract available
3447119
12/2/2015
23452672
23433542
2013
Feb 8
Ann Rheum Dis.
The multifaceted
clinical
presentations and
manifestations of
Erdheim-Chester
disease:
comprehensive
review of the
literature and of 10
new cases.
Cavalli G,
Guglielmi B,
Berti A,
Campochiaro C,
Sabbadini MG,
Dagna L
lorenzo.dagna@
unisr.it
1 Vita-Salute San
Milan, Italy
2013
Jan 26
Cerebellum
A Rare Cause of
Late-Onset
Cerebellar Ataxia:
Erdheim-Chester
Disease
Shanmugam SV,
Kolappan M,
Garg M, Rennie
WJ, Furness P,
Rajabally YA
2012
Duodecim
Thirst and
extensive bone
lesions in a
previously basically
healthy woman
2012
Dec
Cancer Res
Treat.
Reply to
commentary on "a
case of erdheimchester disease
with asymptomatic
renal involvement"
Laitinen K,
Lamminen A,
Anttila P,
Lohman M,
KarjalainenLindsberg ML.
Lee HJ, Kim TM.
Department of
Neurology, University
Hospitals of Leicester,
Leicester, LE5 4PW, UK
[email protected]
m
[email protected]
Pg 33 of 139
Tae Min Kim, MD.
Medicine, Seoul
National University
Hospital, Seoul National
University College of
Medicine, 101 Daehakro, Jongno-gu, Seoul
110-744, Korea. Tel:
+82-2-2072-3559, Fax:
+82-2-764-2199, Email:
[email protected]
OBJECTIVES:
Erdheim-Chester disease (ECD) is a rare inflammatory disorder characterised by
organ infiltration by non-Langerhans' histiocytes. Although rare, ECD is clearly an
overlooked diagnosis. No data specifically addressing the most frequent
presentations of ECD at the time of onset in a large cohort of patients are currently
available.
METHODS:
We reviewed all the published cases in the English literature of histologicallyconfirmed ECD. We excluded reports in which data regarding onset and diagnosis
were not univocal, as well as repeated reports of the same case(s). We also
included in the analysis 10 new unpublished patients from our cohort. We analysed
the disease presentation with particular regard to the manifestations that induced
patients to seek medical attention and their subsequent evolution.
RESULTS:
In the cumulative cohort of 259 cases, ECD predominantly presented with skeletal
symptoms, diabetes insipidus, neurological and constitutional symptoms. Diabetes
insipidus and constitutional symptoms, if not present at onset, seemed to only
seldom develop. There were differences in ECD presentation and course among
different age groups of patients.
CONCLUSIONS:
Physicians should be aware of the extraordinarily heterogeneous clinical
presentations and manifestations of ECD in order to include ECD in the differential
diagnosis of several conditions.
23396641
A previously quite healthy 65-year-old woman sought emergency hospital care due
to fatigue, weight loss and sensation of thirst appearing over a couple of months.
Further analysis revealed a process affecting the neurohypophysis and extensive
lytic sclerotic bone lesions. Eventually a rare generalized underlying disease was
unraveled: the diagnosis included both Langerhans cell histiocytosis and ErdheimChester disease.
23342482
12/2/2015
23354540
23341795
2012
Dec
Cancer Res
Treat.
Commentary on "a
case of erdheimchester disease
with asymptomatic
renal involvement"
Li Cavoli G.
2013
Jan 8
Oncologist
Hand-SchullerChristian Disease
and ErdheimChester Disease:
Coexistence and
Discrepancy
Yin J, Zhang F,
Zhang H, Shen
L, Li Q, Hu S,
Tian Q, Bao Y,
Jia W.
2012
Dec
20
Blood
Dramatic efficacy of
vemurafenib in both
multisystemic and
refractory ErdheimChester disease
and Langerhans
cell histiocytosis
harboring the
BRAF V600E
mutation
Haroche J,
Cohen-Aubart F,
Emile JF,
Arnaud L,
Maksud P,
Charlotte F,
Cluzel P, Drier
A, Hervier B,
Benameur N,
Besnard S,
Donadieu J,
Amoura Z.
Pg 34 of 139
Division of Nephrology
and Dialysis, Civic and
Di Cristina Hospital,
Gioacchino Li Cavoli, via
Francesco Cilea 43,
Palermo 90144, Italy.
Tel: 39-3332318100,
Fax: 39-0916663454,
Email:
gioacchinolicavoli@liber
o.it
Weiping Jia, M.D.,
Ph.D., Shanghai Clinical
Center for Diabetes,
Department of
Endocrinology and
Metabolism, Shanghai
Jiao Tong University
Affiliated Sixth People's
Hospital, 600 Yishan
Road, Shanghai
200233, China.
Telephone: 011-86-2164369181; Fax: 011-8621-64368011; E-mail:
[email protected]
medicine & French
reference center for rare
auto-immune & systemic
diseases, AP-HP, PitieSalpetriere hospital,
Paris, France
[email protected]
.fr
23341794
Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) share
similar clinical features and mechanisms. In very rare circumstances, the two
diseases coexist in the same patient. Here we report such a patient, who was first
diagnosed with Hand-Schüller-Christian disease (HSC), a type of LCH. Several
years later, the patient presented with severe exophthalmos and osteosclerosis on
radiograph. New biopsy revealed ECD. We also analyze 54 cases of LCH and 6
cases of ECD diagnosed in our hospital, as well as their progression during a
follow-up period of 8 years. In five cases of HSC (9.3% of LCH), a triad of central
diabetes insipidus, hyperprolactinemia, and pituitary stalk thickening on magnetic
resonance imaging (MRI) preceded the typical bone lesions by 4-9 years. In
addition, LCH was featured as elevated plasma alkaline phosphatase (ALP), which
was normal in ECD. Combined with a literature review, several features are
summarized to differentiate ECD from HSC. In patients with diabetes insipidus,
concomitant hyperprolactinemia and pituitary stalk thickening on MRI indicate a
possible HSC. Additionally, if osteosclerosis is observed in a patient with LCH, the
coexistence of ECD should be considered.
Histiocytoses are rare disorders of unknown origin with highly heterogeneous
prognosis. BRAF(V600E) gain-of-function mutations have been observed in 57% of
cases of Langerhans cell histiocytosis (LCH) and 54% of cases of Erdheim-Chester
disease (ECD), but not in other types of histiocytoses. Targeted therapy with an
inhibitor of mutated BRAF (vemurafenib) improves survival of patients with
melanoma. Here, we report vemurafenib treatment of three patients with
multisystemic and refractory ECD carrying the BRAF(V600E) mutation; two also
had skin or lymph node LCH involvement. The patients were assessed clinically,
biologically (CRP values), histologically (skin biopsy), and morphologically (positron
emission tomography [PET], computed tomography and magnetic resonance
imaging). For all patients, vemurafenib treatment led to substantial and rapid
clinical and biological improvement, and the tumor response was confirmed by
PET, computed tomography and/or magnetic resonance imaging one month after
treatment initiation. For the first patient treated, the PET response increased
between months one and four of treatment. The treatment remained effective after
4 months of follow-up although persistent disease activity was still observed.
Treatment with vemurafenib, a newly approved BRAF inhibitor, should be
considered for patients with severe and refractory BRAF(V600E) histiocytoses,
particularly when the disease is life-threatening.
23299772
12/2/2015
23258922
2012
Nov
Vnitr Lek
The effect of
lenalidomide on
rare blood
disorders:
Langerhans cell
histiocytosis,
multicentric
Castleman disease,
POEMS syndrome,
Erdheim-Chester
disease and
angiomatosis
Adam Z, Pour L,
Krejčí M,
Zahradová L,
Szturz P,
Koukalová R,
Rehák Z,
Nebeský T,
Hájek R, Král Z,
Mayer J.
Interní
hematoonkologická
klinika, LF MU a FN
Brno.
[email protected]
2012
Dec
17
J Clin Oncol
BRAF Mutations in
Erdheim-Chester
Disease.
Emile JF,
Charlotte F,
Amoura Z,
Haroche J.
medicine & French
Paris, France
[email protected]
.fr
Pg 35 of 139
Lenalidomide has been licenced for the treatment of multiple myeloma and, in
2012, it is used as a standard treatment of relapses of the disease. Literature
contains a number of publications on the effects of lenalidomide in myelodysplastic
syndrome, in malignant lymphomas and chronic B lymphocytic leukaemia. The
effects of the drug in rare diseases, however, have not been investigated so far. In
this paper, we summarize our experience with lenalidomide in rare blood disorders.
We observed an excellent effect of lenalidomide in multifocal aggressive,
repeatedly relapsing Langerhans cell histiocytosis where it led to complete
remission. This patient was treated with 2-chlorodeoxyadenosine and with CHOEP
(cyclophosphamide, etoposide, doxorubicin, vincristine and prednisone)
chemotherapy and high dose BEAM chemotherapy with autologous transplantation
of haematopoietic tissue for an early disease relapse. Following another early
relapse, the patient was treated with lenalidomide (25 mg). Treatment with
lenalidomide induced complete remission on PET-CT. The patient was
consolidated during the remission with a reduced intensity conditioning regimen
and allogeneic transplantation of haematopoietic tissue. Following allogeneic
transplantation, the patient has been in full remission for 10 months. We further
showed an excellent effect of lenalidomide in multicentric Castleman disease with
generalized involvement of lymphatic nodes, B symptoms and vasculitis. We
observed partial efficacy in Erdheim-Chester disease. We used 2chlorodeoxyadenosine as part of initial treatment that delivered partial regression of
brain infiltrates only; fluorodeoxyglucose accumulation in the bones has not
changed. Lenalidomide 25 mg was used as second line treatment. This led to
complete regression of CNS infiltrates on MRI but fluorodeoxyglucose
accumulation in bone lesions did not change. Regression of clinical signs and
regression of fibrosis of retroperitoneum was achieved with an ongoing treatment
with anakinra. Conclusion: We showed an effect of lenalidomide in Langerhans cell
histiocytosis and in Castleman disease. The treatment led to regression of brain
infiltrates in a patient with Erdheim-Chester disease. A dose of 10 mg of
lenalidomide daily in combination with 50 mg of thalidomide stabilized a course of
angiomatosis. Lenalidomide did not deliver the required treatment response in a
patient with POEMS syndrome and multiple previous therapies. [Publised in
Czech.]
12/2/2015
23256832
23248255
2012
Oct 11
Hum Pathol
Histiocytic
disorders of the
gastrointestinal
tract
Detlefsen S,
Fagerberg CR,
Ousager LB,
Lindebjerg J,
Marcussen N,
Nathan T,
Sørensen FB
Department of Clinical
Pathology, Vejle
Hospital, 7100 Vejle,
Denmark; Department of
Pathology, Odense
5000 Odense, Denmark.
Electronic address:
[email protected].
2012
Oct 1.
Intern Med
Immunopathologica
l analysis of
erdheim-chester
disease with
massive ascites
Ota M,
Sakamoto M,
Sato K, Yoshida
Y, Funakubo
Asanuma Y,
Akiyama Y,
Yamakawa M,
Mimura T.
2012
JulAug
JBR-BTR
Erdheim-Chester
disease detected
with 99mTc MDP
bone SPECT/CT
2012
Sep
24
J Clin Oncol
Erdheim-Chester
Disease Harboring
the BRAF V600E
Mutation
Ceulemans G,
Keyaerts M,
Verbruggen L,
Hoorens A,
Boulet C,
Verdries D, De
Maeseneer M,
Ilsen B, Everaert
H.
Blombery P,
Wong SQ, Lade
S, Prince HM.
Department of
Rheumatology and
Applied Immunology,
Faculty of Medicine,
Saitama Medical
University, Japan 2)
Department of
Pathological
Diagnostics, Faculty of
Medicine, Yamagata
University, Japan
Correspondence to Dr.
Kojiro Sato,
[email protected]
Medicine, UZ Brussel,
Brussels, Belgium
Pg 36 of 139
Peter MacCallum
Cancer Centre, Victoria,
Australia
[email protected]
The morphologic diagnosis of histiocytic lesions of the gastrointestinal tract can be
challenging, and several disorders have to be considered in their differential
diagnosis. We present one of the most widespread examples of xanthomatosis of
the gastrointestinal tract published so far and give a short review on histiocytic
disorders of the gastrointestinal tract in general. The primary histiocytic disorders of
uncertain origin, Rosai-Dorfman disease, Langerhans cell histiocytosis, and
Erdheim-Chester disease, are addressed. Reactive and infectious conditions such
as xanthomatosis, xanthogranulomatous inflammation, juvenile xanthogranuloma,
Whipple's disease and malacoplakia are discussed as well. We also briefly go into
primary histiocytic disorders of neoplastic origin, systemic diseases with secondary
gastrointestinal tract involvement like the lysosomal storage disorders, and
pigmented lesions. Using a panel of histochemical stains and
immunohistochemical markers, together with conventional microscopy, clinical
information, and imaging studies, the diagnosis of histiocytic disorders of the
gastrointestinal tract can be established in most instances.
We treated a 77-year-old woman with pleural and pericardial effusion and ascites.
Initially, collagen vascular disease was suspected due to the presence of anticentromere antibodies and suspected complication of pulmonary arterial
hypertension. However, soft-tissue abnormalities surrounding the bilateral kidneys
detected on computed tomography (CT) and symmetrical lesions of the long bones
detected on bone scintigraphy made us consider a diagnosis of Erdheim-Chester
disease (ECD), which is a rare form of histiocytosis. We immunochemically
analyzed the cells derived from the ascites in detail and confirmed the diagnosis.
Immunocytochemical analyses may therefore help to achieve a better
understanding of the pathogenesis of this rare disease.
23063502
Erdheim-Chester disease (ECD) is a rare non-Langerhans' cell histiocytosis. Mild
but permanent juxta-articular bone pain in mainly knees and ankles is the most
frequent associated symptom. Despite the pathognomonic radiographic findings,
most cases are still diagnosed by the pathologist.The lesions consist of lipid-storing
CD 68 +/CD 1a--non-Langerhans' cell histiocytes, most frequently localized in bone
but also involving multiple organ systems in the body. We present a case report in
which the diagnosis of ECD was established with 99mTc MDP bone SPECT/CT.
23019992
23008323
12/2/2015
23037484
2012
Sep
19
Joint Bone
Spine
Favorable
radiological
outcome of skeletal
Erdheim-Chester
disease
involvement with
anakinra
Aubert O, Aouba
A, Deshayes S,
Georgin-Lavialle
S, Rieu P,
Hermine O.
2012
Sep
11
Clin Neurol
Neurosurg.
Paroxysmal
exertion-induced
dystonia secondary
to Erdheim-Chester
disease.
2012
Oct;12
Pract
Neurol.
Histiocytosis for the
neurologist: a case
of Erdheim-Chester
disease.
Baldacci F,
Lucetti C,
Vergallo A,
Borelli P, Tessa
C, Viacava P,
Bonuccelli U.
Selvarajah JR,
Rodrigues MG,
Ali S.
2012
Aug
Arch Neurol.
Erdheim-Chester
Disease
Liotta EM,
Jhaveri MD, Fox
JC, Venugopal
P, Lewis SL.
2012
Jun;14
Isr Med Assoc
J.
Erdhiem-Chester
disease in a 49
year old man.
Asher I,
Rabinovith I,
Katz M,
Sthoeger Z.
Pg 37 of 139
Department of Adult
Haematology, Centre
National de la
Recherche Scientifique,
Unité Mixte de
Recherche 8147,
Hôpital-Necker EnfantsMalades, Université de
Paris-Descartes, AP-HP,
Paris, France.
[email protected]
Department of
Neuroscience,
University of Pisa, Pisa,
Italy.
[email protected].
Erdheim-Chester disease is a rare non-langerhans cell histiocytosis characterized
by infiltration of foamy CD68-positive but CD1a-negative macrophages and fibroinflammatory lesions as retroperitoneal, periureteral areas or bones. Interferon-α
therapy has been used as treatment but it had variable efficiency and limited
tolerance. More recently, a recombinant form of interleukin-1 receptor antagonist
(anakinra) was used with success but no skeletal radiological improvement was
recorded. We report here a case of interleukin-1 receptor antagonist in the
treatment of refractory bones infiltration in Erdheim-Chester disease. After 1 year of
treatment, the positron emission tomography-computed tomography showed an
outstanding response of the skeletal involvement with clearly lower and smaller
hypermetabolism images.
22999905
Dr Johann R Selvarajah,
Institute of Neurological
Sciences, Southern
General Hospital,
Glasgow, UK;
Johann.Selvarajah@ggc
.scot.nhs.uk
Steven L. Lewis, MD
Dept. of Neurological
Sciences
Rush University Medical
Center
1725 W. Harrison St.,
Ste. 1106
Chicago, IL 60612
[email protected]
Dr. Z. Sthoeger
Head, Depts. of Internal
Medicine B and Allergy,
Clinical Immunology and
Neve-Or AIDS Center,
Kaplan Medical Center,
Rehovot 76100, Israel
Phone: (972-8) 9441403 Fax: (972-8) 9441826
email:
[email protected]
The histiocytoses are a rare but diverse group of disorders, ranging from localised,
self-limiting lesions to disseminated, fulminant, multi-system disease. Some
histiocytoses may cause or present with neurological disease and their recognition
can be challenging. We illustrate this with a case, followed by a discussion of the
clinical characteristics and management of the more common histiocytoses that
may present to the neurologist.
22976062
22925950
22891408
12/2/2015
22980524
2012
Jun
Vnitr Lek
Cladribine is highly
effective in the
treatment of
Langerhans cell
histiocytosis and
rare histiocytic
disorders of the
juvenile
xanthogranuloma
group
Adam Z, Szturz
P, Pour L, Krejčí
M, Zahradová L,
Tomíška M, Král
Z, Koukalová R,
Rehák Z, Mayer
J
Interní
hematoonkologická
klinika, LF MU a FN
Brno.
[email protected]
2012
Jun;14
Isr Med Assoc J
Erdheim-Chester
disease: an orphan
condition seeking
treatment
Mazor RD,
Kesler A,
Shoenfeld Y.
Dr. Y. Shoenfeld
Zabludowicz Center for
Autoimmune Diseases,
Sheba Medical Center,
Tel Hashomer 52621,
Israel
Phone: (972-3) 5308070,
Fax: (972-3) 535-2855
email:
[email protected]
Pg 38 of 139
Cladribine (2-chlorodeoxyadenosine) is metabolised and phosphorylated in a cell
up to 2-chloroadenosine triphosphate which is the actual effective form of the drug.
The greatest accumulation of 2-chloroadenosine triphosphate is in the most active
cells, where activating (phosphorylation) enzyme, deoxycytidine kinase, has the
highest activity, whereas inactivating enzyme (dephosphorylation), cytoplasmic 5nucleotidase, has the lowest activity. A very good ratio of the both enzymes for
high effectiveness of cladribine is in resting and proliferating lymphocytes.
Therefore, cladribine is an effective medication for hairy cell leukemia,
Waldenström macroglo-bulinemia but also for chronic -B-lymphocytic leukemia.
However, such high concentrations of 2-chloroadenosine triphosphate are reached
in some cells of histiocytic lines, in monocytes and also in Langerhans dendritic
cells. Thats why cladribine is highly effective medication in treating Langerhans cell
histiocytosis and also in treating diseases of the juvenile xanthogranuloma group.
In the paper we present a survey of published experience with cladribine in patients
with Langerhans cell histiocytosis. The effectiveness of cladribine in the childhood
form of Langerhans cell histiocytosis is investigated only in 1 multicentric clinical
study, other data are taken from single case reports or small series studies.
Cladribine was used in 60 adult patients altogether and in 51 of them (85%)
treatment response (CR + PR) was achieved. In the group of childhood patients
cladribine was used in 182 cases and treatment response (CR + PR) was reached
in 110 (60.4%) thereof. One possible explanation for a higher number of therapy
responses in adults is lower Langerhans cell histiocytosis aggressiveness in adults
than in children. Another explanation is the fact that therapy responses in adults
are summarized only from case reports and smaller cohorts, whereas in children,
case reports and also results of a prospective randomized clinical study are
included. Diseases of the juvenile xanthogranuloma group are much more rare
than Langerhans cell histiocytosis and so the number of publications is smaller. In
total, 7 publications describe therapy response of cladribine in some of the juvenile
xanthogranuloma forms (Erdheim-Chester disease, disseminated juvenile
xanthogranuloma and localized form of plane xanthoma type). Cladribine was also
effective in CNS infiltration by Langerhans cell histiocytosis cells or juvenile
xanthogranuloma cells. Conclusions: Cladribine is a highly effective medication
used in treating Langerhans cell histiocytosis. It is very good tolerated in
monotherapy. Therefore, it is suitable for initial therapy of adults with multifocal or
multisystem form of Langerhans cell histiocytosis. Furthermore, it has the use in
treating relapses after some other initial therapy. According to published
experience, it is an effective drug for diseases of the juvenile xanthogranuloma
group (Erdheim-Chester disease, diffuse juvenile xanthogranuloma and also RosaiDorfman disease). Key words: cladribine - 2-chlorodeoxyadenosine - Langerhans
cell histiocytosis - diabetes insipidus - juvenile xanthogranuloma - plane xanthoma
- Erdheim-Chester disease - Rosai-Dorfman disease - sinus histiocytosis with
massive lymphadenopathy. [Article in Czech]
Comment on
Erdhiem-Chester disease in a 49 year old man.
12/2/2015
22913238
22891403
2012
Malaysian
Orthopaedic
Journal
Rare Presentation
of a Rare Disease
(Erdheim-Chester
disease): A Case
Report
Koh TW, M
Fadli, SL Vijaya
Kumar,
Ashutosh S Rao
2012
Augus
t
Open Journal of
Rheumatology
and
Autoimmune
Diseases
Erdheim-Chester
Disease with Right
Atrial Tumor and
“Temporal Arteritis”
Joseph Skalski,
William D.
Edwards, Eric L.
Matteson
2012
Aug 9
Blood
High prevalence of
BRAF V600E
mutations in
Erdheim-Chester
disease but not in
other nonLangerhans cell
histiocytoses
2012
Aug 6
J Clin Oncol
Tumor Necrosis
Factor α As a
Master Regulator of
Inflammation in
Erdheim-Chester
Disease: Rationale
for the Treatment of
Patients With
Infliximab
Haroche J,
Charlotte F,
Arnaud L, Von
Deimling A,
HéliasRodzewicz Z,
Hervier B,
Cohen-Aubart F,
Launay D, Lesot
A, Mokhtari K,
Canioni D,
Galmiche L,
Rose C,
Schmalzing M,
Croockewit S,
Kambouchner M,
Copin MC,
Fraitag S, Sahm
F, Brousse N,
Amoura Z,
Donadieu J,
Emile JF
Dagna L, Corti
A, Langheim S,
Guglielmi B, De
Cobelli F,
Doglioni C,
Fragasso G,
Sabbadini MG,
Ferrarini M.
Pg 39 of 139
SL Vijaya Kumar,
Department of
Orthopaedics, Sultan
Abdul Halim Hospital,
08000 Sungai Petani,
Malaysia
Email:
[email protected]
Division of
Rheumatology, Mayo
Clinic College of
Medicine, Rochester,
USA.
Email:
[email protected]
u
medicine & French
Paris, France
[email protected]
.fr
Erdheim-Chester disease (ECD) was first reported by J. Erdheim and W. Chester,
in 1930. There are less than 250 reported cases till date. We report a case of ECD
in a 16- year-old Malay male, who initially presented with elusive anemic symptoms
with more specific symptoms of bony pain, cardiorespiratory and hepatic
involvement evolving as the disease progressed.
Histiocytoses are rare disorders of unknown origin with highly heterogeneous
prognosis. BRAF mutations have been observed in Langerhans cell histiocytosis
(LCH). We investigated the frequency of BRAF mutations in several types of
histiocytoses. Histology from 127 patients with histiocytoseswere reviewed.
Detection of BRAF(V600) mutations was performed by pyrosequencing of DNA
extracted from paraffin embedded samples. Diagnosis of Erdheim-Chester Disease
(ECD), LCH, Rosai-Dorfman disease, juvenile xanthogranuloma, histiocytic
sarcoma, xanthoma disseminatum, interdigitating dendritic cell sarcoma and
necrobiotic xanthogranuloma were performed in 46, 39, 23, 12, 3, 2, 1 and 1
patients respectively. BRAF status was obtained in 93 cases. BRAF(V600)
mutations were detected in 13/24 (54%) ECD, 11/29 (38%) LCH, and none of the
other histiocytoses. Four patients with ECD died of disease. The high frequency of
BRAF(V600) in LCH and ECD suggests a common origin of these diseases.
Treatment with vemurafenib should be investigated in patients with malignant
BRAF(V600) histiocytosis.
22879539
University; San Raffaele
Scientific Institute, Milan,
Italy.
[email protected]
No abstract available. (Supported in part by the ECD Global Alliance, DeRidder,
LA., with final grant report available. E-mail: [email protected].)
22869874
Erdheim-Chester disease is an unusual syndrome characterized by nonLangerhans cell histiocytosis which can mimic rheumatologic diseases. We report a
case of Erdheim-Chester masquerading as giant cell arteritis, which was successfully managed with anakinra as anti IL-1 therapy.
12/2/2015
2012
Aug 4
Clin Exp
Nephrol
Image of ErdheimChester disease
requiring
hemodialysis
Tsukamoto M,
Akahane M,
Nangaku M.
2012
May
J Heart Valve
Dis
Postoperative
cardiac homograft
involvement in
Erdheim-Chester
disease
Siram AT,
Kouvatsos T,
Suarez Y,
Wohler A,
Stelzer P,
Strauchen J,
Mechanick JI
2012
Jun
Cancer Res
Treat
A case of erdheimchester disease
with asymptomatic
renal involvement
Lee HJ, Lee KY,
Shin DY, Lee
YG, Choi SY,
Moon KC, Han
IK, Kim TM
Pg 40 of 139
Department of
Nephrology and
Endocrinology,
Graduate School of
Medicine, The University
of Tokyo, 7-3-1 Hongo,
Bunkyo-ku, Tokyo, 1138655, Japan.
Division of
Endocrinology, Diabetes
and Bone Diseases,
Mount Sinai Medical
Center, New York, NY
10029, USA.
[email protected]
m
Medicine, Seoul
National University
Hospital, Seoul National
Medicine, Seoul, Korea.
[email protected]
22864518
Erdheim-Chester disease (ECD) is a rare multisystem disorder which is known to
affect the skin, lungs, bone, pituitary gland, retroperitoneum and cardiovascular
system. The case is described of a patient with ECD who had previously
undergone a Ross procedure for presumed endocarditis involving the aortic valve
and aortic root. The patient subsequently developed arthralgias, abdominal pain
(requiring an exploratory laparotomy) and polydipsia. Furthermore, he developed
progressive, symptomatic stenosis of the pulmonic homograft. A reoperative
replacement of the homograft was required. The clinically suspected diagnosis of
ECD was confirmed by a pathologic analysis of the explanted pulmonary
homograft, and also (retrospectively) of previously resected mesenteric tissue. It is
postulated that the patient may have developed ECD as a result of an immunologic
reaction to the homograft tissue used for the Ross procedure.
Erdheim-Chester disease is a rare non-Langerhans-cell histiocytosis involving
bones and multiple organs. Its clinical course can vary, from an asymptomatic state
to a fatal disease, with renal involvement being a common cause of death. A 41year-old man presented with a 10-month history of bilateral lower limb pain. Left
perirenal soft-tissue infiltration had been found incidentally two years earlier. No
progression of the lesion or deterioration of renal function was observed for a
period of two years. At admission, plain radiography and magnetic resonance
imaging of the patient's lower limbs showed patchy osteosclerosis. Biopsy of the
tibia revealed histiocytic infiltration, which was found to be positive for CD68 and
negative for CD1a. This report describes an unusual case of Erdheim-Chester
disease involving a stationary course of disease with no specific treatment for a
long period of time.
22808847
12/2/2015
22802754
2012
Jul 11
Med Clin (Barc)
Erdheim-Chester
disease: study of
12 cases
Juanós Iborra M,
SelvaO'Callaghan A,
Solanich Moreno
J, VidallerPalacin A, Martí
S, Grau Junyent
JM, Vilardell
Tarrés M
Servicio de Medicina
Interna, Hospital
General Universitario
Vall d'Hebron,
Departamento de
Medicina, Universitat
Autònoma de Barcelona,
Barcelona, España.
[email protected]
BACKGROUND AND OBJECTIVE:
Erdheim-Chester disease (EC) is a rare form of non-Langerhans' cell histiocytosis.
It is characterized by the xanthomatous infiltration of tissues with foamy
CD68+/CD1a- histiocytes. We report a series of 12 patients diagnosed with EC.
22795496
PATIENTS AND METHODS:
We reviewed the clinical, pathological and therapeutic aspects of 12 cases
diagnosed with EC at 7 tertiary teaching hospitals in Spain. Patients were included
if tissue infiltration by histiocytes CD68+/CD1a- could be demonstrated in an
appropriate clinical setting.
RESULTS:
Twelve patients (7 male) were included. Median follow-up was 36 months (IQR: 2084). The median age at the time of clinical onset and pathological diagnosis was 49
(IQR: 28-61) and 56 years (IQR: 37-62), respectively. In 6 cases multiples biopsies
were performed (skin, muscle, testicular) previous to diagnosis, which was
confirmed in 3 cases after a carefully review of pathological tissues. Neurological
involvement was independently associated with mortality (P<.05). Characteristic
long bone osteosclerosis was detected in 9 patients.
2012
Jul
Pg 41 of 139
Radiographics
Tumorlike
conditions of the
pleura
Walker CM,
Takasugi JE,
Chung JH,
Reddy GP, Done
SL, Pipavath SN,
Schmidt RA,
Godwin JD 2nd
Departments of
Radiology and
Washington Medical
Center, 1959 NE Pacific
St, Box 357115, Seattle,
WA 98195; PugetSound VA Health Care
System and Seattle
Seattle, Wash.
[email protected]
CONCLUSION:
EC is a multisystemic and heterogeneous clinicopathological condition. A high
index of suspicion and fluent communication between clinicians and pathologists is
necessary to achieve a correct diagnosis. [Article in Spanish]
Tumorlike conditions of the pleura are rare, but diagnosis is facilitated by
recognizing certain imaging patterns and interpreting them in the clinical context. A
tumorlike condition of the pleura is any nonneoplastic lesion of the pleura itself, or
within the pleural space, that resembles a tumor. An approach to diagnosis of the
tumorlike conditions of the pleura is provided, and these conditions are grouped
into focal or diffuse conditions, with an emphasis on specific imaging features.
Focal tumorlike conditions of the pleura include pleural plaque, thoracic splenosis,
thoracic endometriosis causing catamenial pneumothorax, and pseudotumor
caused by pleural effusion. Thoracic splenosis should be considered in a patient
who has a healed left lower rib fracture, an absent spleen, and left lower pleural
nodules. Thoracic endometriosis with catamenial pneumothorax should be
considered in a woman of childbearing age who presents with right scapular pain
and recurrent pneumothorax occurring at or around the onset of menses.
Extrapleural hematoma is a nonpleural mimic of pleural tumor and shares some
imaging features with focal tumorlike conditions of the pleura, despite residing in
the extrapleural space. Diffuse tumorlike conditions of the pleura include diffuse
pleural thickening and rare conditions such as Erdheim-Chester disease and
diffuse pulmonary lymphangiomatosis. Erdheim-Chester disease should be
considered when diffuse pleural thickening occurs with a perirenal soft-tissue halo
or distal femoral sclerosis. Diffuse pulmonary lymphangiomatosis should be
considered when findings include diffuse pleural thickening, interlobular septal and
peribronchovascular interstitial thickening, and mediastinal fat infiltration limited to
the thorax and when these findings persist despite diuretic therapy.
12/2/2015
22786988
2012
Jul;
Clin Nephrol
Pericardial effusion
as a crucial
presentation of
Erdheim-Chester
disease in a
hemodialysis
patient: an
overlooked
diagnosis
Chen MT, Wang
SM, Lin SY, Ting
IW, Liu JH, Kuo
HL, Huang CC.
Division of Nephrology
and Kidney Institute,
Medicine, and China
Medical University,
Taichung, Taiwan.
[email protected]
2012
Jun 7
J Clin Neurosci
Xanthomatous
hypophysitis
Niyazoglu M,
Celik O,
Bakkaloglu DV,
Oz B, Tanriöver
N, Gazioglu N,
Kadioglu P.
Division of
Endocrinology and
Metabolism, Department
of Internal Medicine,
University of Istanbul,
Cerrahpasa Medical
School, EndokrinolojiMetabolizma ve Diyabet
Bilim Dali, Cerrahpasa
34303, Istanbul, Turkey.
[email protected]
2012
Jun 3
Radiologe
Obscure
exophthalmus
Götz A,
Stroszczynski C,
Müller-Wille R.
2012
May
26
J Neurol
Erdheim-Chester
disease presenting
with an
intramedullary
spinal cord lesion.
2012
May
25
Orbit
Unusual Orbital
Involvement in
Erdheim Chester
Disease: A
Radiological
Diagnosis
Tzoulis C,
Gjerde IO,
Søfteland E,
Neckelmann G,
Strøm E,
Vintermyr OK,
Sviland L,
Biermann M.
Arora A, Sharma
S, Pushker N,
Kashyap S,
Bakhshi S.
Institut für
Röntgendiagnostik,
Universitätsklinikum
Regensburg, FranzJosef-Strauß-Allee 11,
93053, Regensburg,
Deutschland,
[email protected].
Department of
Neurology, Haukeland
5021, Bergen, Norway,
[email protected]
Pg 42 of 139
Sanjay Sharma, AIIMS,
Radiodiagnosis,
Ansari Nagar, New
Delhi, 110029
India. E-mail:
[email protected]
m
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis whose
hallmark is tissue infiltration by CD68-positive, CD1a-negative and usually S-100
protein-positive foamy non-Langerhans histiocytes and mononuclear cells. Here,
we report a hemodialysis (HD) patient who presented with fever and pericardial
effusion. We performed pericardiocentesis with pericardial biopsy and the
histological findings indicated ECD. We administered intravenous
methylprednisolone pulse therapy (250 mg/d) followed by oral prednisolone (50
mg/d). The patient's fever gradually subsided and there was no recurrence of
pericardial effusion. This is the first report of an HD patient with ECD. We suggest
that ECD be considered in the differential diagnosis of new HD patients who
present with pericardial effusion, especially when this did not improve following
increased dose of HD.
Xanthomatous hypophysitis (XH) is the rarely seen primary form of hypophysitis.
The histological differential diagnosis includes other causes of hypophysitis,
Erdheim-Chester disease (ECD), Langerhans cell histiocytosis, Rosai-Dorfman
disease and plasma cell granulomas. We present a 39-year-old woman admitted to
our department with headache, menstrual irregularity and galactorrhea. The MRI
revealed a lesion with a central cystic/necrotic region and a diameter of almost
1cm. Histologic examination showed an inflammatory infiltrate of numerous foamy
histiocytes, surrounding the necrotic tissue. On immunohistochemical sections,
infiltrating foamy cells stained strongly positive for CD68, and negative for CD1a
and S100. After establishing the diagnosis of XH, the patient underwent
glucocorticoid treatment. XH should be considered in the differential diagnosis of
pituitary lesions. Since XH is rare, it is difficult to assess the efficacy of
medical/surgical treatment of this entity accurately.
A 63-year-old male patient presented with retrobulbar pressure which had been
present for 1 year. Contrast-enhanced computed tomography (CT) and magnetic
resonance imaging (MRI) revealed symmetrical retrobulbar, perivascular and
retroperitoneal infiltration of soft tissue and also showed cardiac involvement. In
combination with the histological findings displaying infiltration by foamy
histiocytes, Erdheim-Chester disease was diagnosed. [article in German.]
22732342
--
22638564
Erdheim-Chester disease (ECD) is an exceedingly rare, disseminated nonLangerhan cell histiocytosis with multisystem involvement, having characteristic
sclerotic skeletal lesions. We present an unusual case primarily manifesting as an
extensive orbital disease, with low-grade systemic involvement. Owing to its rarity
and therefore lack of general awareness it remains a difficult clinical and pathologic
diagnosis. Immuno-histochemistry of the biopsy specimen is diagnostic.
22631449
12/2/2015
22682648
22660510
2012
May
21
Clin Radiol.
Neoplastic and
proliferative
disorders of the
perinephric space
Heller MT,
Haarer KA,
Thomas E,
Thaete FL.
Department of
Pittsburgh Medical
Center, Pittsburgh, PA,
USA.
[email protected]
2012
JanFeb
Indian Heart J.;
Recurrent and
rapidly occurring
pericardial
tamponade in
Erdheim Chester
disease.
George OK,
Subhendu MS.
Professor, Department
of Cardiology, Christian
Medical College,
Vellore, India
[email protected]
Pg 43 of 139
The perinephric space is a well-marginated central compartment of the
retroperitoneum, located between the anterior and posterior pararenal spaces.
Various neoplastic and proliferative disorders can affect the perinephric space, and
there is a wide array of imaging findings. Although many perinephric lesions may
extend directly from the kidney and adrenal gland, other lesions occur in the
perinephric space due to haematogenous spread, as part of a systemic disease, or
by extension from an adjacent retroperitoneal compartment. Imaging plays a
pivotal role in the diagnosis of perinephric diseases, as many of the disease
processes affecting this space will not result in clinical signs or symptoms until the
disease is at an advanced stage. Despite the often shared non-specific clinical and
imaging findings among these disease processes, application of a categorical
differential diagnosis based on the imaging characteristics will serve to narrow the
differential diagnosis and direct further evaluation and treatment. In this article, the
lesions have been categorized as soft-tissue rind [nephroblastomatosis, fibrosis,
Erdheim-Chester disease (ECD), extramedullary haematopoiesis, lymphoma,
infiltrating metastases], focal solid lesions (extension of renal or adrenal
malignancies, melanoma metastases, treated lymphoma), fat-containing lesions
(angiomyolipoma, liposarcoma, myelolipoma), and cystic lesions (lymphangiomas,
abscesses). The aim of this article is to demonstrate and describe the key imaging
features of several neoplastic and proliferative disorders that affect the perinephric
space.
Erdheim Chester disease is a very rare histiocytic disorder characterised by tissue
infiltration by lipid laden histiocytes. The most common presentation is bone pains
typically involving the long bones. Over time almost 50% of the patients develop
extraosseous involvement. The prognosis depends on the extent and distribution of
the extraskeletal manifestations. Cardiovascular involvement is seen in up to 40%
of the patients and the most common manifestations are periaortic fibrosis and
pericardial involvement. Respiratory distress, extensive pulmonary fibrosis, and
cardiac failure are the most common causes of death in these patients. Cardiac
tamponade has also been documented to cause death in these patients. We
describe a patient of Erdheim Chester disease who presented with recurrent and
very rapidly occurring cardiac tamponade in a short duration of time and benefited
from timely recognition and management.
12/2/2015
22622354
22572439
2012
Apr
Vnitr Lek Czech
Interleukin-1
receptor blockade
with anakinra
provided cessation
of fatigue, reduction
in inflammation
markers and
regression of
retroperitoneal
fibrosis in a patient
with ErdheimChester disease case study and a
review of literature
Adam Z, Szturz
P, Bučková P,
Cervinková I,
Koukalová R,
Rehák Z, Krejčí
M, Pour L,
Zahradová L,
Hájek R, Král Z,
Mayer J.
Interni
hematoonkologicka
klinika Lekarske fakulty
MU a FN Brno.
[email protected]
2012
May
Brain Pathol
A 38-year old
woman with a dural
based lesion
Husain S,
Alkhalidi HM,
Raddaoui E.
Dept. of Pathology King
Khalid Univ. Hospital,
Riyadh, Saudi Arabia
2012
May
Prog Urol.
Erdheim-Chester
disease: Report of
a case and
literature review
Prunel P,
Verhoest G,
Besnard S,
Rohou T, RiouxLeclercq N,
Bensalah K.
Service d'urologie,
hôpital Pontchaillou,
CHU de Rennes, 2, rue
Henri-Le-Guilloux,
35033 Rennes cedex,
France
Email:
[email protected]
Pg 44 of 139
We describe a case of an Erdheim-Chester disease patient. First line
chemotherapy treatment with 2-chlorodeoxyadenosine did not reduce
fluorodeoxyglucose accumulation in pathological lesions. The patient had
continuously increased CRP values of 17-20 mg/l. The disease continued to cause
subfebrile temperatures and significant fatigue that made the patient to spend most
of the daytime in bed. To manage the permanently increased inflammation
markers, we decided to start treatment with anakinra, successfully used in some
other autoinflammatory diseases (e.g. Schnitzler syndrome). We have now been
able to evaluate the first 6 months of treatment. Daily subcutaneous administration
of anakinra (KineretTM 100 mg daily) led to normalization of CRP values, cessation
of subfebrile temperatures and, importantly, significant reduction of fatigue. Time
periods the patient was able to spend out of the bed increased significantly.
Consequent to the reduced fatigue, the patient was able to perform basic
household tasks he was unable to undertake without treatment. After 3 months of
treatment, fatigue of the same intensity returned following a short interruption of
therapy. The CRP values went up again to 12 mg/l. CRP value returned back to
norm and fatigue ceased after re-initiation of daily Kineret injections. Objective
treatment response was assessed by measuring the degree of fluorodeoxyglucose
accumulation in pathological bone lesions. PET-CT was performed before and 3
and 6 months after anakinra initiation. Intensity of accumulation did not change
significantly after the first 3 months of therapy but decreased after 6 month therapy.
Follow up CT of abdominal cavity was performed at the end of the 6th month of
treatment. Presented CT images from before and 6 months after the treatment
evidence an obvious reduction in fibroid changes in the retroperitoneum. Daily
administration of anakinra to a patient with active Erdheim-Chester disease
significantly reduced intensity of fatigue and improved quality of life, led to a
reduction in inflammatory markers and regression in retroperitoneal fibrotization.
Isolated intracranial xanthogranulomas arising from the dura mater are extremely
rare.We present a case of a symptomatic large right frontoparietal dura based
intracranial xanthogranuloma in a 38-year-old female. Xanthogranulomas are
benign non-Langerhans cell histiocytic lesions. They are frequently described in the
skin of infants and children. Extracutaneous manifestations especially in the central
nervous system are highly uncommon. Dural xanthogranulomas usually arise in
association with familial hypercholesterolemia, with Erdheim Chester disease
(ECD), and with Weber-Christian disease. Our case however, had no such
associations. In this report, the authors describe the clinical, radiological and
microscopic presentation of this case and the differential diagnoses of intracranial
xanthogranuloma.
The Erdheim-Chester disease is a rare non-Langerhans hystiocytose acquired in
adults. It results from a xanthogranulomatous infiltration, consists of histioccytes
foamy and is characterized by heterogeneous systemic manifestations. The most
frequent clinical manifestations of the disease are the bone with a long bone
uptake on bone scintigraphy99Tc (Dion et al., 2006 [1]) and urological damage with
an array of pseudo retroperitoneal fibrosis. We report the case of a 64-year-old
man in whom was founded in the course of acute obstructive renal disease with
Erdheim-Chester pseudofibrose retroperitoneal. Article in French.
12/2/2015
22559807
22497617
22515929
2012
Mar
J Neurol Surg A
Cent Eur
Neurosurg
Erdheim-chester
disease-a rare
differential
diagnosis of
eosinophilic
granuloma: a case
report
Progressive
dysphagia caused
by ErdheimChester disease
Platz R,
Romeike BF,
Pandey DK, Kalff
R, Reichart R.
University Clinic Jena,
Neurosurgical Clinic,
Jena, Germany.
22467484
2012
Mar
30
QJM.
Vermeiren P,
Van Laecke S,
Cuvelier C, De
Loose D,
Vanholder R.
.
22466415
Br J Radiol
Erdheim-Chester
disease associated
with intramedullary
spinal cord lesion.
Takeuchi T, Sato
M, Sonomura T,
Itakura T.
2012
Feb
29
Rheumatology
(Oxford)
Whole-body MRI in
Erdheim-Chester
disease.
Arnaud L, Bach
G, Zeitoun D,
Drier A, Cluzel
P, Grenier PA,
Amoura Z,
Haroche J.
2011
Dec
10
Nihon Naika
Gakkai Zasshi
Case report; an
autopsy case of
Erdheim-Chester
disease involving
the lung and heart
Suzuki S,
Matsuura T,
Fukuda M, Take
M, Kubo S,
Yoshimoto T.
Renal Division,
Department of
Pathology and
Department of
Gastroenterology, Ghent
Belgium.
Dr Morio Sato,
Department of
Radiology, Wakayama
Medical University, 8111 Kimiidera,
Wakayamashi,
Wakayama 641-8510,
Japan. E-mail:
[email protected]
ma-med.ac.jp
Medicine, Department of
Radiology and
Departement of
Neuroradiology, AP-HP,
Groupe Hospitalier PitiéSalpêtrière, UPMC Univ
Paris, Paris, France.
Medicine, Asoka
Hospital, Japan.
2012
Mar
Pg 45 of 139
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis. We
present a case of a 56-year-old male with ECD. As time progressed, involvement of
the orbital fossa, cranial convexity, spinal cord, brain stem, thyroid, lung,
retroperitoneum, lower extremity bones and skin were found. Previously reported
cases reveal the frequency of ECD with spinal cord involvement is rare. Although
this was a presumed diagnosis based on other lesions, our case is the first in which
both intramedullary and epidural masses are present.
22391503
22378719
Japanese. No abstract available
22338895
12/2/2015
2012
Jan 31
Semin Arthritis
Rheum
Treatment of
Erdheim-Chester
Disease with LongTerm High-Dose
Interferon-α
Hervier B,
Arnaud L,
Charlotte F,
Wechsler B,
Piette JC,
Amoura Z,
Haroche J.
Medicine, APHP, French
Auto-Immune Diseases,
Hôpital Pitié-Salpêtrière,
Paris, France; UPMC
University of Paris 06,
Paris, France
OBJECTIVES: Erdheim-Chester disease (ECD) is a rare non-Langerhans cell
histiocytosis, characterized by a foamy CD68+, CD1a- histiocyte tissue infiltration.
Efficacy of standard doses of interferon-α-2a (IFNα) has been suggested in a small
series but with variation, depending on the organs involved. Our aim was to report
our single-center experience about the use of high-dose IFNα in ECD.
22300602
METHODS: Twenty-four ECD patients have received high-dose IFNα (IFNα ≥18
mIU/wk or pegylated-IFNα ≥180 μg/wk). IFNα efficacy was evaluated clinically and
morphologically using a standardized protocol (median follow-up 19 months).
RESULTS: Indication for treatment was central nervous system and/or heart
involvement (n = 20), exophthalmos (n = 1), and standard-dose IFNα inefficacy (n =
3). High-dose IFNα was effective in 16 patients (67%) with improvement (n = 11,
46%) and stabilization (n = 5, 21%). Late and gradual improvement was observed
during prolonged follow-up in most patients. The efficacy of high-dose IFNα was
dependent on the organs involved: central nervous system and heart improvement
or stabilization occurred in 7/11 (64%) and 11/14 (79%) patients, respectively. Six
patients (25%) worsened. High doses of IFNα were well-tolerated: 13 (54.2%)
patients had side effects but treatment interruption was infrequent (n = 3, 12.5%).
2012
Feb 1
Am J Respir Crit
Care Med.
2011
Dec 8
Int J Surg Case
Rep.
Erdheim chester
disease: an
unusual fluid
overload mimic
Erdheim-Chester
disease: The role of
video-assisted
thoracoscopic
surgery in
diagnosing and
treating cardiac
involvement.
Joshi M, Olman
M.
-
Egan A, Sorajja
D, Jaroszewski
D, Mookadam F.
Cardiovascular
Diseases
Mayo Clinic Arizona
13400 E Shea Blvd
Scottsdale, AZ 852595499
United States.
Tel.: +1 480 301 6907
fax: +1 480 301 8018.
Email:
mookadam.farouk@may
o.edu
CONCLUSIONS:
High-dose IFNα may be effective in severe ECD. Improvement may be slow, and
high-dose IFNα treatment should be prolonged
-
Erdheim-Chester disease is a rare, non-Langerhans histiocytosis in which
pericardial involvement is diagnosed with increasing frequency and is associated
with high mortality rates. PRESENTATION OF CASE: A 53-year-old woman
presented with progressive exertional dyspnea and pericardial effusion was
discovered. Further investigations revealed the presence of a diffuse, infiltrating
process and a diagnosis of Erdheim-Chester disease was made. An emergent
pericardiocentesis by subxiphoid approach was completed but recurrent drainage
obviated removal of the pigtail catheter. A pleuro-pericardial window was placed
using video-assisted thoracoscopic surgery (VATS) and analysis of the resected
specimen confirmed pericardial involvement.
DISCUSSION: In this case, high pericardial fluid output demanded definitive
treatment of the pericardial effusion. Traditionally this would be completed via
thoracotomy. VATS is a minimally invasive alternative which permits exploration of
the thoracic cavity and the creation of a pleuropericardial window.
CONCLUSION: We describe, for the first time, the successful use of VATS for
both diagnostic confirmation and therapeutic relief of recurrent pericardial fluid
drainage due to pericardial involvement by Erdheim-Chester disease.
Pg 46 of 139
12/2/2015
22298365
22288060
2011
Dec
27
Cytojournal
Cytomorphology of
Erdheim-Chester
disease presenting
as a retroperitoneal
soft tissue lesion
Purgina B, Jaffe
R, Monaco SE,
Khalbuss WE,
Beasley HS,
Dunn JA,
Pantanowitz L.
Ronald Jaffe, MB.BCh
Department of
Pathology
Children's Hospital of
Pittsburgh
4401 Penn Avenue
Pittsburgh PA 15224
USA
e-mail:
[email protected]
2011
Nov
10
Nihon Naika
Gakkai Zasshi
Mochiduki N,
Iida K, Kusuhara
M, Kotani I.
Division of Cardiology,
Shizuoka Cancer Center
Hospital, Japan.
2012
Feb
Clin Nucl Med
Case report; a case
of cardiac tumor
diagnosed with
Erdheim-Chester
disease
F-18 FDG PET/CT
Detects Muscle
Involvement in
Erdheim-Chester
Disease
Ambrosini V,
Savelli F, Merli
E, Zompatori M,
Nanni C, Allegri
V, Fanti S.
Medicine, S. OrsolaMalpighi University
Hospital, Bologna, Italy
2011
Aug;
Rev Med Chil
Erdheim-Chester
disease: Report of
one case
Vega J,
Cisternas M,
Bergoeing M,
Espinosa R,
Zapico A,
Chadid P,
Santamarina M.
Dr. Jorge Vega Stieb
5 Norte 1035, Viña del
Mar, Chile.
Fono: 56-32-2974237
Fax: 56-32-2970050
E-mail:
jvegastieb@gmail.
com
Pg 47 of 139
Erdheim-Chester disease (ECD) is a rare, multisystem disorder of macrophages.
Patients manifest with histiocytic infiltrates that lead to xanthogranulomatous
lesions in multiple organ systems. The cytologic features of this disorder are not
well characterized. As a result, the cytologic diagnosis of ECD can be very
challenging. The aim of this report is to describe the cytomorphology of ECD in a
patient presenting with a retroperitoneal soft tissue lesion. A 54-year-old woman
with proptosis and diabetes insipidus was found on imaging studies to have
multiple intracranial lesions, sclerosis of both femurs and a retroperitoneal soft
tissue mass. Fine needle aspiration (FNA) and a concomitant core biopsy of this
abnormal retroperitoneal soft tissue revealed foamy, epithelioid and multinucleated
histiocytes associated with fibrosis. The histiocytes were immunoreactive for CD68,
CD163, Factor XIIIa and fascin, and negative for S100, confirming the diagnosis of
ECD. ECD requires a morphologic diagnosis that fits with the appropriate clinical
context. This case describes the cytomorphologic features of ECD and highlights
the role of cytology in helping reach a diagnosis of this rare disorder.
Japanese. No abstract available.
22279491
A case of Erdheim-Chester disorder, a rare non-Langerhans' cell histiocytosis, was
referred for restaging by F-18 FDG PET/CT more than 10 years after initial
diagnosis. The patient presented diabetes insipidus, hypergondotropic
hypogonadism, and osteosclerotic lesions. Previous bone scintigraphy documented
pathognomonic long bones' involvement. Chronic steroid and hormone
replacement therapy was administered, and the patient was asymptomatic. F-18
FDG PET/CT was useful for disease restaging at cardiac and soft tissues level.
We report a 76-year-old male who was admitted due to progressive congestive
heart failure lasting several months. An echocardiogram showed a large pericardial
effusion with early signs of pericardial tamponade and an irregular surface
suggestive of cancer infi ltration. The patient was operated, creating a pericardial
window and draining 1,200 ml of a brownish yellow fl uid with abundant cellularity.
Pericardial biopsy showed infi ltration by CD68 (+), CD1a (-) and S100 (-) cells.
Twenty-eight months earlier, due to fatigue, dyspnea, and a non-specifi c
inflammatory process, an enhanced-contrast-scan showed that aorta was coated
with a hypodense tissue that began near the aortic valve and extended until the
inferior mesenteric artery, with stenosis of the left subclavian, celiac axis, renal and
upper mesenteric arteries. An angioplasty and stent placing was carried out in the
last two arteries. Both kidneys had the appearance of “hairy kidneys”. A bone scan
showed increased uptake in femurs and tibiae and X-ray examination showed
osteosclerosis in metaphysis and diaphysis. The diagnosis of Erdheim-Chester
disease (non-Langerhans-cell histiocytosis) was made and the patient was treated
with steroids and methotrexate. (article in Spanish)
22228352
12/2/2015
22250424
22215336
2012
Jan;24
Curr Opin
Rheumatol.
Langerhans cell
histiocytosis and
Erdheim-Chester
disease.
Wilejto M, Abla
O.
Division of
Haematology/Oncology,
Department of
Paediatrics, The
Hospital for Sick
Children, Toronto,
Ontario, Canada.
PURPOSE OF REVIEW:
To provide an updated overview of the pathogenesis and treatment of Langerhans
cell histiocytosis (LCH) and Erdheim-Chester disease (ECD).
22157416
RECENT FINDINGS:
There is ongoing debate as to the exact pathogenesis of these disorders and their
classification as reactive versus neoplastic. Proinflammatory cytokines are known
to play a role in both LCH and ECD and strengthen the hypothesis that, at least in
part, they are disorders of immune dysregulation. The recent discovery of
activating mutations in the proto-oncogene BRAF in a subset of LCH patients
suggests that LCH is in fact a neoplastic disorder. Understanding of the
mechanisms that promote proliferation and migration of histiocytes has led
researchers to explore targeted immune-modulatory therapies for ECD. Similarly
for LCH, alternative chemotherapeutic agents and reduced-intensity hematopoietic
stem cell transplant are being evaluated for refractory disease.
SUMMARY:
More research is needed to better understand the cause of these disorders and
may help in identifying new targeted therapies, particularly for patients with
refractory or relapsed disease. Multinational trials are ongoing for LCH and are
urgently needed for ECD.
2011
Dec
J Am Coll
Cardiol
Interferon-alpha in
cardiac erdheimchester disease.
2011
Nov
13
Curr Opin
Rheumatol
Erdheim-Chester
disease
Haroche J,
Sciarra A,
Balzarini L,
Fiamengo B,
Amoura Z,
Graziani G.
Haroche J,
Arnaud L,
Amoura Z.
Monti L, I.R.C.C.S.
Istituto Clinico
Humanitas, Rozzano,
Italy; University of Milan,
School of Medicine,
Milan, Italy.
Medicine and French
Rare Autoimmune and
Systemic Diseases,
Assistance PubliqueHôpitaux de Paris, PitiéSalpêtrière Hospital
22152958
PURPOSE OF REVIEW:
Erdheim-Chester disease (ECD) is a rare, non-Langerhans form of histiocytosis
first described in 1930 with a wide range of manifestations. The number of new
cases has dramatically increased over the past 10 years because of the better
recognition of this condition. The natural evolution is variable, but the spontaneous
prognosis is severe. In this review, we describe the relevant clinical, radiological,
prognostic, and therapeutic features of this orphan disease.
RECENT FINDINGS:
Compelling evidence demonstrates the efficacy of treatment by interferon alpha
(IFNα) which has been reported to be a major independent predictor of survival
among ECD patients. Alternative treatments remain to be defined. Recent studies
have highlighted the central nervous system involvement as an independent
predictor of death. Pathophysiology is better understood with a complex network of
cytokines and chemokines and a systemic immune Th-1-oriented perturbation.
SUMMARY:
ECD, although a rare and orphan disease, has been overlooked and numerous
new cases are currently diagnosed because of general better knowledge of this
histiocytosis. First-line treatment is IFNα. We have recently described a unique
cytokine signature that may provide further clues to understand the pathogenesis
of ECD, as well as provide new tools for diagnosis and targeted therapy.
Pg 48 of 139
12/2/2015
22089098
2011
Sep;1
4
Pg 49 of 139
Hell J Nucl Med
(18)F-FDG positron
emission
tomography/compu
ted tomography
and (99m)Tc-MDP
skeletal
scintigraphy in a
case of ErdheimChester disease
Asabella AN,
Cimmino A, Altini
C, Notaristefano
A, Rubini G.
Nuclear Medicine UnitDi.M.I.M.P., University of
Bari, Piazza G. Cesare,
11, 70124 Bari, Italy.
[email protected]
a.it
Erdheim-Chester disease (ECD) is a rare form of non-Langerhan's cell histiocytosis
with unknown aetiology, is charaterized by systemic xanthogranulomatous
infiltrative disease. The typical ECD diagnostic triad is bone pain, diabetes
insipidus and bilateral exophthalmos. A 24 years old man came at our attention for
polydipsia with nocturnal and diurnal polyuria, anorexia, febrile episodes, and
arthromyalgia especially in the knees. Physical examination showed bilateral
periorbital xanthelasma. Blood exams showed increase of plasma osmolarity,
haematocrit, sodium and urea and decrease of potassium. Urine exams showed
just decreased urine specific gravity, suggestive for central diabetes insipidus
(CDI). Brain magnetic resonance with gadolinium enhancement showed the
presence of multiple hyperintense lesions expecially in neurohypophysis (swollen
and with markedly contrast enhancement). Two weeks later, whole-body plus lower
limbs 18-fluorine-labelled 2-deoxy-2-fluoro-D-glucose positron emission
tomography/computed tomography ((18)F-FDG PET/CT) was performed. Uptake of
(18)F-FDG was observed in the upper portion of the midbrain area (SUV(max) 7.1)
and the pituitary gland (SUV(max) 7.3), and diffuse bone marrow uptake of (18)FFDG in the proximal epiphysis and metaphysis of both humeri and thigh bones
(SUV(max) 6.5), shoulder blades, pelvis bones and the L2 vertebral body
(SUV(max) 3.9). This (18)F-FDG PET/CT confirmed the presence of brain lesion
seen in MRI , the absence of visceral lesions, but also showed the presence of an
atypical bone uptake of (18)F-FDG, leading to the suspision of ECD. A technetium99m-methyl-diphosphonate skeletal scintigraphy ((99m)Tc-MDP) scan showed
diffuse uptake of the radiopharmaceutical, in the diaphysis of long bones and in the
left portion of the body and the spinous process of L2. Considering the difficulties of
an osteomedullary or brain biopsy, biopsy was performed on a right anterior
thoracic cutaneous xanthelasma. Histology showed lipid-laden histiocytes (CD1a-,
CD68+, S-100 protein -) with small nuclei, Touton giant, lymphocytic infiltrates,
eosinophils and fibrosis, ECD gold standard patterns as reported in literature. The
patient was discharged with the diagnosis of ECD with central nervous system
(CNS) manifestations, and treatment started. The diagnosis can be lead by the
most charateristic bone findings of symmetrical osteosclerosis of the long bones,
especially the lower limbs (tibia and fibula), involving metaphyses and diaphyses
but sparing epiphyses. About half of all ECD patients may experience extraskeletal
manifestations, including CNS. Visceral involvement in ECD is not specific, and this
enforces the diagnostic value of skeletal imaging findings. Furthermore xanthomas
can be found at any location on the skin, especially the eyelids as in our patient.
For visceral involvement, CT is most useful, while MRI is more sensitive for CNS
lesions. Involvement of CNS may be frequently revealed clinically by diabetes
insipidus. Few case reports have shown that (18)F-FDG PET/CT scanning could
be useful in assessing the extension of ECD lesions. Both radiography and
(99m)Tc-MDP skeletal scintigraphy may reveal osteosclerosis of the long bones,
which is a typical finding in ECD. The typical bone pattern of (18)F-FDG PET/CT
scan is specific for ECD and (99m)Tc-MDP skeletal scintigraphy may be performed
in patients in whom initial (18)F-FDG PET/CT scans present the possibility of ECD
diagnosis. Others reported that (18)F-FDG PET/CT scans had good sensitivity
(66.7%) and specificity (92.3%) as compared with MRI of the CNS involvement or
lesions. In conclusion, the (18)F-FDG PET/CT scan and the (99m)Tc-MDP scan
depicted many of the most relevant lesions of ECD for the initial assessment of
ECD in our patient.
12/2/2015
22087457
2011
Nov
Radiographics
Sclerosing bone
dysplasias: review
and differentiation
from other causes
of osteosclerosis
Ihde LL,
Forrester DM,
Gottsegen CJ,
Masih S, Patel
DB, Vachon LA,
White EA,
Matcuk GR Jr.
Department of
Radiology, Keck School
of Medicine, University
of Southern California,
1500 San Pablo St, 2nd
Floor Imaging, Los
Angeles, CA 900335313
2011
Nov
11
Eur J
Echocardiogr
Cardiac
involvement in
Erdheim-Chester
disease:
echocardiographic
appearance and
value of cardiac
MRI
Merli E, Savelli
F, Lovato L,
Zompatori M.
Department of
Cardiology, Ospedale
per gli Infermi, viale
stradone 9, 48018,
Faenza, Ravenna, Italy.
[email protected]
Pg 50 of 139
Sclerosing bone dysplasias are skeletal abnormalities of varying severity with a
wide range of radiologic, clinical, and genetic features. Hereditary sclerosing bone
dysplasias result from some disturbance in the pathways involved in osteoblast or
osteoclast regulation, leading to abnormal accumulation of bone. Several genes
have been discovered that, when disrupted, result in specific types of hereditary
sclerosing bone dysplasia (osteopetrosis, pyknodysostosis, osteopoikilosis,
osteopathia striata, progressive diaphyseal dysplasia, hereditary multiple
diaphyseal sclerosis, hyperostosis corticalis generalisata), many of which exhibit
similar pathologic mechanisms involving endochondral or intramembranous
ossification and some of which share similar underlying genetic defects.
Nonhereditary dysplasias include intramedullary osteosclerosis, melorheostosis,
and overlap syndromes, whereas acquired syndromes with increased bone
density, which may simulate sclerosing bone dysplasias, include osteoblastic
metastases, Paget disease of bone, Erdheim-Chester disease, myelofibrosis, and
sickle cell disease. Knowledge of the radiologic appearances, distribution, and
associated clinical findings of hereditary and nonhereditary sclerosing bone
dysplasias and acquired syndromes with increased bone density is crucial for
accurate diagnosis.
22084176
22080452
12/2/2015
2011
Nov
Ann Dermatol
Venereol
Associated
Langerhans cell
histiocytosis and
Erdheim-Chester
disease
Marchal A, Cuny
JF, Montagne K,
Haroche J,
Barbaud A,
Schmutz JL.
Service de
dermatologie, hôpitaux
de Brabois, CHU Nancy,
bâtiment des spécialités
médicales PhilippeCanton, rue du Morvan,
54500 Vandœuvre-lèsNancy, France.
BACKGROUND:
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis with
multiple organ involvement affecting middle-aged adults. A case of ECD associated
with Langerhans cell histiocytosis (LCH) is reported herein.
CASE REPORT:
A 75-year-old woman presented maculopapular skin lesions on her trunk,
associated with constrictive pericarditis and pleurisy present for 1year. The skin
biopsy militated in favour of LCH since it revealed a histiocytic infiltrate with a
positive CD1a marker at immunohistochemistry (IHC). The association with ECD
was diagnosed on the basis of pericarditis, periaortitis, pleurisy, pulmonary
involvement and retroperitoneal fibrosis. The patient was treated with interferonα2a with good initial results, but died from septic shock a year and a half later, a
few months after discontinuing interferon due to poor tolerability.
DISCUSSION:
The clinical, radiographic and histological arguments in favour of ECD clearly differ
from those for LCH. However, as already reported, the two illnesses may be
associated, thus underlining the possible existence of a link between these two
histiocytic proliferations emanating from the same medullary precursor. Two
hypotheses have been advanced in an attempt to explain this association: the first
involves a stimulus that might lead to independent proliferation of the two cell lines
while the second suggests the existence of a transformation pathway from one
form of proliferation to the other.
CONCLUSION:
Screening for associated ECD should be routinely performed in patients presenting
LCH with signs evocative of ECD.
Pg 51 of 139
12/2/2015
22078035
2011
Klin Onkol
Partial regression
of CNS lesions of
Erdheim-Chester
disease after
treatment with 2chlorodeoxadenosi
ne and their full
remission following
treatment with
lenalidomide].
Adam Z,
Sprláková A,
Rehák Z,
Koukalová R,
Szturz P, Krejcí
M, Pour L,
Zahradová L,
Cervinek L, Kren
L, Moulis M,
Hermanová M,
Mechl M, Prásek
J, Hájek R, Král
Z, Mayer J.
Interní
hematoonkologická
klinika, LF MU a FN
Brno.
[email protected]
INTRODUCTION:
Erdheim-Chester disease is a very rare syndrome affecting adult population. It
typically causes hyperostosis of long bones, retroperitoneal fibrosis and widening
of the aortic wall. Patients frequently suffer from disease-associated fevers and
pain in the lower limbs. No guidelines are available for the treatment of this rare
ailment. Therefore, we describe our experience with lenalidomide in a patient with
poor treatment response to 2-chlorodeoxyadenosine.
CASE:
Diabetes insipidus and neurological problems developing over 4 years were the
first signs of the disease. The disease was diagnosed from histology of the bone
marrow extracted from the ilium. At diagnosis, the patient had multiple infiltrates in
the brain, widened wall of the thoracic and abdominal aorta, fibrotic changes to
retroperitoneum and typical hyperostosis of the long bones of lower limbs with high
accumulation of technetium pyrophosphate as well as fluorodeoxyglucose. First
line treatment involved 2-chlorodeoxyadenosine 5 mg/m2 s.c. for 5 consecutive
days every 28 days. There was no clear treatment response identifiable on the MR
scan of the brain following the third cycle and thus 4th-6th cycle consisted of 2chlorodexyadenosine 5 mg/m2 + cyclophosphamide 150 mg/m2 + dexamethasone
24 mg day 1-5 every 28 days. After the 6th cycle, MR showed partial regression of
the brain lesions. PET-CT showed an increased accumulation of
fluorodeoxyglucose in bone lesions. Second line treatment involved lenalidomide
25 mg/day days 1-21 every 28 days. Lenalidomide tolerance was excellent; the
number of neutrophils and thrombocytes was within the physiological range
throughout the treatment period. Follow-up MR showed complete remission of the
brain lesions, while follow-up PET-CT showed further increase in
fluorodeoxyglucose accumulation in the bones of lower limbs.
CONCLUSION:
Treatment with 2-chlorodeoxyadenosine-based regimen provided partial remission
of Erdheim-Chester disease lesions in the brain, while treatment with lenalidomide
resulted in complete remission of these lesions. Fluorodeoxyglucose continues to
accumulate in the long bones of lower limbs. We are unable to elucidate the
reasons for complete remission of the disease in the brain as per the MR and its
progression in the long bones according to PET-CT. Further testing of lenalidomide
in the treatment of this disease is required to support further use of this perspective
treatment option.
Pg 52 of 139
12/2/2015
22070019
2011
Nov
J Clin Oncol.
Role of
iconographic
examinations in the
treatment algorithm
in erdheim-chester
disease.
Aouba A,
Bienvenu B,
Launay D,
Hermine O.
Department of Adult
Haematology Hôpital
Necker EnfantsMalades, Université de
Paris Descartes,
Assistance PubliqueHôpitaux de Paris, 149
rue de Sèvres, 75015
Paris, France;
[email protected] or
[email protected]
.fr.
We read with interest the article by Balink et al1 on a patient with Erdheim-Chester
disease (ECD) who had typical skeletal features from technetium-99 bone
scintigraphy and a positive diagnosis obtained by tibial biopsy. Using positron
emission tomography (PET)/computed tomography (CT) with fluorodeoxyglucose
([18F]FDG), the authors found corresponding bone lesions and abnormal bifocal
uptake in the lungs, suggestive of infiltrative change. On the basis of this
extraskeletal involvement, the authors chose imatinib mesylate therapy. However,
we would like to draw attention to the role of iconographic exams for the diagnosis
and choice of treatment in ECD.
When listing the different ECD treatments, the authors omitted anakinra, which has
recently demonstrated good outcomes in two patients, including a complete
response.4 Anakinra, a recombinant form of interleukin (IL) -1RA, specifically
targets the proinflammatory interleukine-1, which is probably overexpressed in
ECD.4 Indeed, anakinra shares specific mechanisms of action with interferon (INF)
therapy, as INF increases monocytic production of endogenous IL-1RA. INF is the
drug most used for ECD and improves survival.5 Because anakinra exhibits a
better tolerance profile than INF therapy, anakinra seems to be a new and
promising treatment for ECD. By successively blocking IL-1, IL-6, and systemic
inflammation,4,6 both anakinra and INF therapy could have corrected the severe
anemia of chronic disease observed in this patient. Considering the risk of severe
cytopenia and bleeding with imatinib and INF therapy, anakinra should have been
the preferential drug in this patient, who also suffered intermittent rectal bleeding.
Finally, whatever the result of the PET-[18F]FDG scan, this patient would have
needed active systemic treatment because of severe systemic repercussions of the
chronic inflammatory syndrome. Only one case report has described a successful
outcome with imatinib for ECD.3 The use of this drug is limited, and results are
disappointing for this disease; other data are available on only six other patients
with ECD selected for tyrosine kinase overexpression who received imatinib: two
had a stable outcome and four had progressive disease.7 Therefore, INF therapy is
largely used in first-line therapy for ECD, rather than imatinib.5,7,8 Moreover, the
argument of Balink et al to preferentially use imatinib because of extraskeletal
involvement is surprising, as most ECD patients exhibit extraskeletal involvement.
For patients who exhibit isolated, stable bone localization without any systemic
manifestation, a single nonsteroidal anti-inflammatory drug therapy should be
sufficient.4 Taken together, even though imatinib may have some efficacy for a
subset of ECD patients, we are surprised at these authors' recommendation for its
use as first-line therapy for ECD. In addition, this recommendation does not appear
in the article by Janku et al3 to which Balink et al refer. Corticosteroids
symptomatic efficacy is often only partial and transient. The use of bisphosphonate
is also anecdotal and is probably only symptomatic. In contrast, anakinra has
demonstrated dramatic and complete control of all constitutional symptoms.4
To summarize, the diagnostic use of bone scintigraphy, as referred to in the title of
the Balink et al article, and the staging help of PET-[18F]FDG scan, are already
well known. In contrast, the activation status of receptor tyrosine kinase and the
outcome of imatinib mesylate therapy assessed notably with PET-[18F]FDG should
be interesting additive data to report on this rare disease.
Pg 53 of 139
12/2/2015
22025165
2011
Sep
29
AJNR Am J
Neuroradiol
Erdheim-Chester
Disease of the
Central Nervous
System: New
Manifestations of a
Rare Disease
Sedrak P,
Ketonen L, Hou
P, GuhaThakurta N,
Williams MD,
Kurzrock R,
Debnam JM.
J. Mathew Debnam, MD,
University of Texas MD
Anderson Cancer
Center, 1400 Pressler
Blvd, Unit 1482,
Houston, Texas 77030;
e-mail:
Matthew.Debnam@mda
nderson.org
2011
Sep
Dtsch Med
Wochenschr
Recurrent
as first
manifestation of
Erdheim-Chester
disease
Lutz SZ,
Schmalzing M,
Vogel-Claussen
J, Adam P, May
AE.
Abteilung für
Endokrinologie,
Diabetes, Nephrologie,
Angiologie und Klinische
Chemie, Medizinische
Universitätsklinik,
Eberhard-KarlsUniversität, Tübingen
Germany
Pg 54 of 139
BACKGROUND AND PURPOSE: ECD is a rare non-Langerhans-cell histiocytosis,
which can involve the CNS; therefore, CNS imaging findings have been described
in only a small number of patients. To gain additional insight into the CNS
manifestations of ECD, we reviewed the findings on imaging of the brain, head and
neck, and spine in patients with ECD who presented to our institution. Here, we
illustrate manifestations that have not, to our knowledge, been previously
described.
MATERIALS AND METHODS: CT, MR imaging, and PET/CT studies of the brain,
maxillofacial region, and spine were reviewed in 11 patients with ECD.
RESULTS: Four new manifestations of ECD were present, including the following:
a stellate appearance of intracranial extra-axial lesions, ependymal enhancement
along the lateral ventricle with deep linear extension to the lentiform nucleus,
irregular enhancement in the pons, and diffuse involvement of the vertebral column
on PET/CT.
CONCLUSIONS: ECD has a variety of imaging appearances in the CNS, including
new manifestations described herein. Neuroradiologists should be aware of these
manifestations to avoid mistaking them for other disease processes.
History and admission findings: A 65-year-old woman presented with reduced
general condition and dyspnoea that was progressive over the last months. Clinical
findings revealed an exophthalmus on the right, xanthelasm and mild peripheral
oedema. Previously, a pericardiocentesis had been performed due to a large
pericardial effusion. A previous CT scan showed a mass attached to the
pericardium extending through the atrio-ventricular groove and a thickened aorta.
In addition, a retroperitoneal fibrosis and an occlusion of both Aa. iliacae internae
were found.
Investigations: The ECG showed sinus rhythm. Laboratory findings demonstrated
a microcytic anemia and a renal failure. Chest radiography showed a large cardiac
silhouette, while the transthoracic echocardiography revealed a recurrent large
pericardial effusion. A PET/CT scan of the chest and abdomen showed a tissue
infiltration of the retroperitoneal structures, a mass surrounding the right coronary
artery and the right orbita. Finally, a femur biopsy confirmed the diagnosis of
Diagnosis, treatment and course: With the diagnosis Erdheim-Chester disease we
started a high dose immunsuppressive therapy using glucocorticoids and
interferon-a. Tumour size slightly decreased during the following 2 months,
however the patient developed a severe urosepsis and died from multiorgan
failure.
Conclusions: We report a case of an Erdheim-Chester disease with
cardiovascular involvement primarily diagnosed due to a recurrent large pericardial
effusion. In case of cardial tumors with interatrial septum or coronary artery
involvement together with cerebral manifestations, an Erdheim-Chester disease
should be taken into account.
12/2/2015
21960492
21935854
2011
Sep
21
Respiration
Erdheim-Chester
Disease Presenting
with Pneumothorax
Yamaguchi M,
Shiota T,
Kobashi Y.
Masafumi Yamaguchi,
MD, PhD
Department of
Cardiovascular and
Respiratory Medicine,
Shiga University of
Medical Science, Seta
Tsukinowa-cho
Otsu, Shiga 520-2192
(Japan)
Tel. +81 77 548 2213,
E-Mail
[email protected]
m
2011
Aug
26
Arthritis Rheum.
Treatment of
pediatric erdheimchester disease
with interleukin-1
targeting drugs
Tran T, Pariente
D, Lecron J,
Delwail A,
Taoufik Y,
Meinzer U.
2011
Aug
31.
Pediatr Radiol.
Erdheim-Chester
disease with
multisystem
involvement in a 4year-old
Song SY, Lee
SW, Ryu KH,
Sung SH.
Department of
Pediatrics, Pediatric
Rheumatology,
CEREMAI, Hôpital
Bicêtre Université Paris
Sud, Le Kremlin Bicêtre,
France; INSERM U1012 Université ParisSud, Bicêtre, France. [email protected].
Department of
Radiology, Ewha
Womans University
School of Medicine,
Seoul, South Korea,
[email protected]
Pg 55 of 139
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis most
commonly characterized by symmetrical skeletal involvement and may present with
pulmonary involvement leading to chronically progressive pulmonary symptoms.
Characteristics on chest radiography include non-specific findings of diffuse
interstitial and pleural thickening, micronodules, ground-glass opacities and
parenchymal condensation as a result of infiltration by lipid-laden histiocytes. We
present the case of a 50-year-old man with ECD presenting with acute pulmonary
symptoms due to rupture of a large cystic lesion with resultant pneumothorax. He
was brought by ambulance to our hospital, complaining of acute anterior chest pain
and severe dyspnea. Chest radiography showed right-sided pneumothorax with a
collapsed lung, a large, left-sided cystic lesion in the upper lung field and
accentuated interstitial markings. Bullectomy and surgical biopsy were performed,
demonstrating histologically histiocytic infiltrates that were strongly positive for
CD68, but negative for S-100 protein and CD1a. Subsequent systemic
examinations indicated widespread symmetrical skeletal involvement, leading to a
definitive diagnosis of ECD.
21934273
Erdheim-Chester disease is a rare form of non-Langerhans histiocytosis of
unknown origin occurring mainly in adults. It is extremely rare in children. We report
a case of a 4-year-old boy with Erdheim-Chester disease that initially presented as
hemifacial palsy and bone pain with multisystem involvement. We describe
radiographic findings of bones that show characteristic bilateral symmetrical
osteosclerosis with atypical osteolytic lesions in addition to CT findings for
pulmonary involvement and MR findings for intracranial lesions.
21879308
12/2/2015
21898344
2011
Aug 9
Pg 56 of 139
Annales de
Dermatologie et
de Vénéréologie
Associated
Langerhans cell
histiocytosis and
Erdheim-Chester
disease
A. Marchala, J.F. Cunya, K.
Montagneb, J.
Harochec, A.
Barbauda, J.-L.
Schmutz
Service de
dermatologie, hôpitaux
de Brabois, CHU Nancy,
bâtiment des spécialités
médicales PhilippeCanton, rue du Morvan,
54500 Vandœuvre-lèsNancy, France
Background
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis with
multiple organ involvement affecting middle-aged adults. A case of ECD associated
with Langerhans cell histiocytosis (LCH) is reported herein.
Case report
A 75-year-old woman presented maculopapular skin lesions on her trunk,
associated with constrictive pericarditis and pleurisy present for 1 year. The skin
biopsy militated in favour of LCH since it revealed a histiocytic infiltrate with a
positive CD1a marker at immunohistochemistry (IHC). The association with ECD
was diagnosed on the basis of pericarditis, periaortitis, pleurisy, pulmonary
involvement and retroperitoneal fibrosis. The patient was treated with interferonα2a with good initial results, but died from septic shock a year and a half later, a
few months after discontinuing interferon due to poor tolerability.
Discussion
The clinical, radiographic and histological arguments in favour of ECD clearly differ
from those for LCH. However, as already reported, the two illnesses may be
associated, thus underlining the possible existence of a link between these two
histiocytic proliferations emanating from the same medullary precursor. Two
hypotheses have been advanced in an attempt to explain this association: the first
involves a stimulus that might lead to independent proliferation of the two cell lines
while the second suggests the existence of a transformation pathway from one
form of proliferation to the other.
Conclusion
Screening for associated ECD should be routinely performed in patients presenting
LCH with signs evocative of ECD.
12/2/2015
-
2011
Jun
Vnitr Lek
Successful
treatment of
Erdheim-Chester
disease by 2chlorodeoxyadenos
ine-based
chemotherapy. Two
case studies and a
literature review
Adam Z,
Koukalová R,
Sprláková A,
Rehák Z,
Cervinek L,
Szturz P, Krejcí
M, Pour L,
Zahradová L,
Moulis M,
Prásek J,
Chaloupka R,
Hájek R, Mayer
J.
SourceInterní
hematoonkologická
klinika Lékarské fakulty
MU a FN Brno.
[email protected]
[Article in Czech]
Abstract
INTRODUCTION: Erdheim-Chester disease is an extremely rarely occuring
condition and thus an optimal treatment is not known. Two new cases have been
diagnosed in our centre in 2008 and 2009. Both patients had diabetes insipidus, B
symptoms (subfebrile to febrile states) and pain in long bones of lower limbs.
21751544
CASE STUDIES: Imaging showed high accumulation of fluorodeoxyglucose as well
as Tc-pyrophosphate in long bones of lower as well as upper limbs, aortic wall
thickening with periaortic fibrosis and perirenal fibrosis. In addition, one of the
patients had multiple lesions in the brain. 2-chlorodeoxyadenosine 5 mg/m2 s.c.
and cyclophosphamide 150 mg/m2 administered on days 1 to 5 in 28-day cycles
were selected for the treatment of both patients. Dexamethasone 24 mg/day for 5
days was added to this treatment in the second patient. Six cycles of the treatment
were planned. Both patients were prescribed bisphosphonates--zoledronate and
clodronate, respectively. Treatment effect was assessed with PET-CT and MR.
Following treatment completion, brain infiltrates were reduced to a small residuum
in the first patient who did not anymore complain of leg pain. However, there was
no reduction in fluorodeoxyglucose accumulation in bone lesions and thus
treatment response was assessed as partial remission. This patient is currently
receiving a second line treatment and treatment follow-up is 26 months from the
diagnosis. Repeated PET-CTs in the second patient showed a significant reduction
in accumulation of fluorodeoxyglucose in all pathological lesions. Febrile states and
pain in long bones as well as pathological fatigue ceased after the treatment.
Increased CPR and fibrinogen gradually returned to their normal levels. This
response is assessed as complete remission. This patient's follow-up is 16 months
from the diagnosis.
CONCLUSION: Administration of 2-chlorodeoxyadenosine (5 mg/m2 s.c.) +
cyclophosphamide (150 mg/m2 intravenously) and dexamethasone (24 mg/day)
led to partial remission in one patient; nearly complete remission of CNS infiltrates
but persistent elevation of fluorodeoxyglucose accumulation in bone lesions.
Complete remission with a significant reduction in accumulation of
fluorodeoxyglucose in all disease lesions with normalization of originally increased
inflammatory markers and disappearance of all symptoms of the disease was
achieved in the second patient.
2011
JulAug
Pg 57 of 139
J Radiol.
Imaging features of
osseous and extraosseous
involvement in
Erdheim-Chester
disease
Adib O, Baroth
E, Perard L,
Scoazec JY,
Vervueren L,
Aubé C,
Willoteaux S.
SourceDépartement de
radiologie, centre
hospitalier universitaire
d'Angers, 4, rue Larrey,
49933 Angers cedex 09,
France
[Article in French]
Erdheim-Chester disease is a rare form of systemic non-Langerhans cell
histiocytosis characterized by infiltration by lipid-laden or foamy histiocytes.
Osseous involvement, major diagnostic criteria, is constant and characteristic. It
presents as metaphyseal and diaphyseal osteosclerosis, mainly affecting the long
bones of the lower limbs. A few cases with axial skeleton involvement have been
reported. Extra-osseous lesions may affect the retroperitoneum, lungs, skin, heart,
brain and orbits. Prognosis depends mainly on the extra-osseous disease, mainly
heart and lung involvement. Diagnosis is based on the combination of radiographic
features, nuclear medicine features and nearly pathognomonic
immunohistochemical profile.
12/2/2015
21819909
2011
Jul 23
Rheumatol Int
Bilateral orbital
Erdheim-Chester
disease treated
with 12 weekly
administrations of
VNCOP-B
chemotherapy: a
case report and a
review of literature
Broccoli A,
Stefoni V,
Faccioli L,
Agostinelli C,
Spinardi L,
Pastore
Trossello M,
Zinzani PL.
SourceInstitute of
Hematology and Medical
Oncology "L. e A.
Seràgnoli", Policlinico
"Sant'Orsola-Malpighi",
University of Bologna,
Via Massarenti, 9,
40138, Bologna, Italy,
alessandro.broccoli@stu
dio.unibo.it
Erdheim-Chester disease (ECD) is a non-Langerhans' cells histiocytosis of
unknown etiology, which generally presents with long bones involvement, even if
extraskeletal lesions may be frequently recognized. As a consequence of its rarity,
there is no consensus concerning the best standard of care for affected patients.
We present the case of a 53-year-old woman with bilateral orbital histologically
documented ECD, presenting with an important thickening and swelling of the
periorbital tissue and massive involvement of lateral rectal muscles, as
documented by magnetic resonance. The patient was successfully addressed to 12
cycles of a weekly lymphoma-designed chemotherapy regimen, including
etoposide, mitoxantrone, cyclophosphamide, vincristine, bleomycin, and
prednisone (VNCOP-B regimen). Periorbital lesions reduced during the courses of
chemotherapy, along with a regression to normal appearance of the extrinsic
ocular musculature. This appears as an effective and well-tolerated first-line
treatment option for ECD patients, due to the possibility of maintaining an adequate
dose intensity, with also a concomitant continuous steroid administration.
21785962
2011
Aug
Eur J Neurol
Tufan F, Myftiu
B, Aygun D,
Keles N,
Haroche J,
Hanagasi H,
Gurvit H, Emre
M, Besisik S.
SourceDivision of
Geriatrics, Department
of Internal Medicine,
Istanbul School of
Medicine, Istanbul
University, Istanbu
Letter to the Editor
21749566
2011
Jun 16
MMW Fortschr
Med
Pfeil A, Jung C,
Boettcher J, Wolf
G, Hansch A.
21717702
Clin Nucl Med
SourceKlinik für Innere
Medizin III,
Jena
Institute
Università Vita-Salute
San Raffaele School of
Medicine Via Olgettina,
60
20132 Milano, ITALY
Telephone: +39 02
2643 3872
Article in German
2011
Aug
Erdheim Chester
disease presenting
as slowly
progressive
cerebellar
syndrome and
asymptomatic
widespread skeletal
involvement
Which organs are
involved here?
Erdheim-Chester
disease
Erdheim-chester
disease: imagingguided therapeutic
approach
Erdheim-Chester disease (ECD) is a rare form of systemic non-Langerhans cell
histiocytosis with characteristic bone involvement. However, extraskeletal
involvement occurs in approximately half of the patients. Because of its protean
findings, the diagnosis of ECD is often delayed; thus, a clinical suspicion may
prompt specific imaging studies to recognize suggestive signs of organ
involvement. In this study, a case of a patient with ECD with representative
progressive multisystemic involvement has been reported; although the final
diagnosis was confirmed by histologic analysis, imaging studies with almost
pathognomonic findings guided the diagnostic process and prompted different
therapeutic approaches according to the localization of the disease.
21716027
Della Torre E,
Dagna L, Mapelli
P, Mellone R,
Grazia
Sabbadini M.
Fax: +39 02 2643 3787
e-mail:
[email protected]
Pg 58 of 139
12/2/2015
2011
Jun 22
BMC
Gastroenterol
Unusual
Manifestation of
Erdheim-Chester
Disease
Pan A, Doyle T,
Schlup M,
Lubcke R,
Schultz M
Gastroenterology Unit,
Southern District Health
Board, Dunedin, New
Zealand
Email:
[email protected]
2011
Jun 15
J Thorac
Imaging
Erdheim-Chester
Disease With
Interatrial Septum
Involvement
Raptis DA,
Raptis CA,
Jokerst C, Bhalla
S
SourceMallinckrodt
Institute of Radiology,
Washington University,
St. Louis, MO
2011
May
Case Rep
Dermatol
Peculiar distribution
of tumorous
xanthomas in an
adult case of
erdheim-chester
disease
complicated by
atopic dermatitis
Murakami Y,
Wataya-Kaneda
M, Terao M,
Azukizawa H,
Murota H,
Nakata Y,
Katayama I.
SourceDepartment of
Dermatology, Osaka
University Graduate
School of Medicine,
Osaka, Japan
2011
Jun 13
Int J Cardiol
Cardiovascular
involvement in
Erdheim-Chester
disease
Masci PG,
Zampa V,
Barison A,
Lombardi M.
Cardiovascular Magnetic
Resonance Imaging and
§Cardiovascular
Medicine Departments,
Fondazione
CNR/Regione Toscana
'G.Monasterio', Pisa,
Italy
Pg 59 of 139
BACKGROUND: Erdheim-Chester disease (ECD) is a rare multisystem nonLangerhans cell histiocytosis that is characterized histologically by
xanthogranulomatous infiltrates and radiologically by symmetrical sclerosis of long
bones. The xanthomatous process is characterized by prominent foamy histiocytes
staining positive for CD68, occasionally for PS100 and negative for S100 and
CD1a. Gastroenterological involvement is exceedingly rare. Case Presentation:
This case report describes the case of a 69-year-old man who presented otherwise
well to the gastroenterology department with unspecific abdominal symptoms,
nausea, vomiting and weight loss. ECD involving the gastrointestinal tract was
confirmed clinically, radiologically and histologically. CONCLUSION:
Gastroenterological manifestation of ECD is rare but should be considered in the
differential diagnosis in patients presenting with evidence of multi-organ disease
and typical radiological features of Erdheim-Chester disease elsewhere.
Erdheim-Chester disease is an uncommon non-Langerhans cell histiocytosis with
systemic manifestations. Most cases discuss radiologic findings once a pathologic
diagnosis has already been established. We describe a patient with symptoms and
no previously known diagnosis who was imaged with computed tomography,
magnetic resonance imaging, and positron emission tomography. This case is
unusual in that radiologic imaging demonstrated interatrial septum and diffuse
cardiac involvement, in addition to the other characteristic lesions of ErdheimChester disease. The importance of this case to the radiologist is the expansion of
the differential diagnosis of processes involving the interatrial septum and
retroperitoneum.
Erdheim-Chester disease is a rare non-Langerhans form of histiocytosis with
multiple organ involvement. Approximately 20% of patients have xanthoma-like
lesions, usually on the eyelids. We report a case of Erdheim-Chester disease in a
32-year-old male who showed peculiar xanthomatous skin lesions and also had
atopic dermatitis. His skin manifestations included ring-like yellowish tumors on his
periorbital regions, rope necklace-like tumors on his neck, and spindle-shaped
tumors on his right preauricular region and cubital fossas. He also had
exophthalmos and diabetes insipidus. Chronic eczematous lesions were present
on the flexor aspect of his extremities, and his serum eosinophil numbers and
immunoglobulin E levels were elevated. A histological examination of his right neck
tumor showed foamy macrophages and touton-type giant cells, which were positive
for CD68 and CD163 and negative for S-100 and CD1a. We suggest that the
complication of atopic dermatitis may have contributed to the uncommon clinical
features in this case.
21693070
21681117
21677888
21676475
12/2/2015
2011
JulAug
Dimens Crit
Care Nurs
Erdheim-chester
disease: a case
study and literature
review
Andrysek K.
2011
May
18
Thorac
Cardiovasc
Surg
Erdheim-Chester
Disease in a
Female Cardiac
Surgery Patient
Mahoozi HR,
Zittermann A,
Hakim Meibodi
K, Burchert W,
Gummert JF,
Mirow N.
2011
Mar
Zhonghua Er Ke
Za Zhi
Wen C, Liang
QC, Wan WQ
2011
Jun
Pathology
Erdheim-Chester
disease in a child:
case report
Erdheim-Chester
disease with
extensive coronary
arterial involvement
2011
Apr 6
Cen Eur
Neurosurg
Platz R,
Romeike BF,
Pandey DK, Kalff
R, Reichart R.
2011
Apr
J Bone Joint
Surg Am
Erdheim-Chester
Disease - A Rare
Differential
Diagnosis of
Eosinophilic
Granuloma. A Case
Report
Total knee
arthroplasty in a
patient with
erdheim-chester
disease with
massive joint
destruction: a case
report
Pg 60 of 139
Vaideeswar P,
Vaz WF.
Steinert AF,
Reppenhagen S,
Baumann B,
Rudert M, Nöth
U.
SourceClinic for
Thoracic and
Cardiovascular Surgery,
Heart Center NRW, Bad
Oeynhausen, Germany
Diagnosis and treatment of patients who present with respiratory compromise are
challenging. What happens when these patients do not respond to your
intervention, and their condition declines rapidly? Having a variety of differential
diagnoses is key. An addition to your differential list can include a rare disorder of
non-Langerhans cells histiocytosis also known as Erdheim-Chester disease. This
disease often presents as an interstitial lung disease that fails many different
treatment modalities. A full understanding of how this disease process works is still
being investigated. Provided are a literature review and case study for better
understanding of this disease.
We report a case of Erdheim-Chester disease (ECD) with isolated cardiac
involvement in a 74-year-old female patient. The patient initially presented with
superior vena cava syndrome and PET-CT imaging demonstrating an obstructing
hypermetabolic lesion in the right atrium, and a distinct nonobstructing
hypermetabolic lesion in the left atrium, expected to be malignant. There was no
evidence of extracardiac disease. At surgical exploration, consistent with
malignancy, the right atrial tumor was found to have grown into the pericardium
and was resected to address symptoms and for histological diagnosis which
revealed ECD on immunohistochemistry. We conclude that isolated cardiac ECD
should be included in the surgical strategy for cardiac tumors showing infiltrative
growth.
[Article in Chinese]
21654219
21594819
21575377
Departments of
Pathology
(Cardiovascular and
Thoracic Division), India
†Forensic Medicine,
Seth G. S. Medical
College and K. E. M.
Hospital, Mumbai, India
University Clinic Jena,
Neurosurgical Clinic,
Jena, Germany.
21566495
Department of
Orthopaedic Surgery,
König-Ludwig-Haus,
Julius-MaximiliansUniversity Würzburg,
Brettreichstrasse 11, D97074 Würzburg,
Germany. [email protected]
21471409
21472656
12/2/2015
2011
Mar
Intern Med J.
Erdheim-Chester
disease presenting
with large
pericardial effusion:
a mimic of
disseminated
malignancy
Scintigraphic
Diagnosis of
Erdheim-Chester
Disease
Jain P, Jepson
N, Lawford R.
Department of
Cardiology Prince of
Wales Hospital, Sydney,
New South Wales,
Australia.
21426470
2011
Mar
21
J Clin Oncol
Balink H,
Hemmelder MH,
de Graaf W,
Grond J.
21422416
Respiratory
Medicine CME
Pulmonary
Erdheim-Chester
disease: A
response to
predonisolone
2011
Mar
10
Blood
Erdheim-Chester:
beyond the lesion
Kumi Yoneda
Nagahama,
Takuo Hayashi,
Tetsutaro
Nagaoka, Ryota
Kanemaru,
Shinsaku Togo,
Toshio
Kumasaka,
Toshimasa
Uekusa, Kuniaki
Seyama,
Kazuhisa
Takahashi
Allen CE,
McClain KL
Medical Centre
Leeuwarden,
Leeuwarden, the
Netherlands
[email protected]
Department of
Juntendo University
School of Medicine; 2-11 Hongo, Bunkyo-ku,
Tokyo 113-8421, Japan
e-mail: [email protected]
2011
2011
Feb
24
Am J
Dermatopathol
Erdheim-Chester
Disease: A
Histiocytic Disorder
More Than Skin
Deep
Pg 61 of 139
Skinner M,
Briant M,
Morgan MB
Baylor College of
Medicine; Texas
Children's Cancer
Center; Feigin Center;
1102 Bates St; Houston,
TX 77030
e-mail:
[email protected]
Michael Morgan, 12901
Bruce B. Downs Blvd.,
Department of
South Florida, Tampa,
Florida 33612
Erdheim-Chester disease (ECD) is a rare non-Langerhan’s cell histiocytosis of
unknown origin, involving multiple organs. The patient with ECD described here is
a 38-year-old man who was admitted to the hospital with dyspnea on exertion. His
chest radiograph revealed a diffuse reticulonodular shadow. After the videoassisted thoracoscopic surgery was performed, he was diagnosed as having ECD.
A brown eruption on his left temple, when tested by skin biopsy, proved to be ECD.
No lesions other than these on the lung and skin were identified, and oral
administration of predonisolone successfully treated both of them. Although
recovery has followed the administration of predonisolone and chemotherapy for
several patients with pulmonary ECD, this is the first report that predonisolone
alone provided clinical and objective recovery from pulmonary ECD. This outcome
indicates that, of all the many treatments tried for ECD, steroids may become the
first-line therapy for pulmonary involvement.
none
Erdheim-Chester Disease (ECD) is an extraordinarily rare, poorly understood, and
often fatal histiocytic disorder. In this issue of Blood, Arnaud and colleagues
describe cytokine profiles in serum from patients with ECD and identify a systemic
proinflammatory cytokine ECD-signature.
21393495
Erdheim-Chester disease is a rare potentially malignant systemic non-Langerhans
cell histiocytosis. Although classically described in the pulmonary system and long
bones, cutaneous involvement has been chronicled in 2 previous case reports.
Herein, we describe a single systemic case afflicting an elderly man with
synchronous multifocal cutaneous disease. The previous literature and pertinent
differential diagnosis will be discussed.
21358382
12/2/2015
2011
Feb
14
J
Neuroophthalm
ol.
Presence of
Erdheim-Chester
Disease and
Langerhans Cell
Histiocytosis in the
Same Patient: A
Report of 2 Cases.
Pineles SL, Liu
GT, Acebes X,
Arruga J, Nasta
S, Glaser R,
Pramick M, Fogt
F, Roux PL,
Gausas RE.
Division of NeuroOphthalmology,
Department of
Neurology (SLP, GTL),
Departments of
Ophthalmology (SLP,
GTL, REG),
Hematology-Oncology
(SN), Cardiology (RG),
Pathology (FF), and
Neurosurgery (PLR),
Hospital of the
University of
Pennsylvania,
Philadelphia,
Pennsylvania;
Departments of
Neurology and
Ophthalmology (XA, JA),
Bellvitge Hospital,
Barcelona, Spain; and
Department of
Pathology (MP),
Pennsylvania Hospital,
Philadelphia,
Pennsylvania.
The histiocytic disorders Langerhans cell histiocytosis (LCH) and Erdheim-Chester
disease (ECD), can both present with multisystem involvement, with the central
nervous system and the bone, skin, neuroendocrine, cardiac, respiratory, and
gastrointestinal systems potentially affected. The 2 entities occasionally can be
difficult to distinguish. Both rarely affect the orbit and the central nervous system,
and although there are rare reports of patients with coexistent LCH and ECD, there
are no reported cases of the 2 diseases that involve both the orbital and
neuroendocrine systems. We report 2 such cases, and review the literature of
cases of LCH and ECD occurring in the same patient. The presentation of LCH and
ECD in certain patients suggests a possible abnormality in the common CD34
progenitor cell. The coexistence of the 2 disease states should be suspected in
patients with atypical presentations of either disorder.
21326112
2011
Jan 14
Blood
CNS involvement
and treatment with
interferon-alpha are
independent
prognostic factors
in Erdheim-Chester
disease: a
multicenter survival
analysis of 53
patients
Arnaud L,
Hervier B, Néel
A, Hamidou MA,
Kahn JE,
Wechsler B,
Pérez-Pastor G,
Blomberg B,
Fuzibet JG,
Dubourguet F,
Marinho A,
Magnette C,
Noel V, Pavic M,
Casper J,
Beucher AB,
CostedoatChalumeau N,
Aaron L,
Salvatierra J,
Graux C,
Cacoub P,
Delcey V,
Dechant C, Bindi
P, Herbaut C,
Graziani G,
Amoura Z,
Haroche J.
Dr Julien Haroche
Interne 2.
Groupe Hospitalier PitiéSalpêtrière,
47-83 bd de l’Hôpital,
75013, Paris, France.
Phone number: (33) 1
42 17 80 40
Fax number: (33) 1 42
17 80 44
Email :
[email protected]
.fr
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans histiocytosis,
with non-codified therapeutic management and high-mortality. No treatment has
yet been shown to improve survival in these patients. We conducted a multicenter
prospective observational cohort study to assess whether extraskeletal
manifestations and interferon-alpha treatment would influence survival in a large
cohort of ECD patients. To achieve this goal, we thoroughly analyzed the clinical
presentation of 53 patients with biopsy-proven ECD, and performed a survival
analysis using Cox proportional hazard model. Fifty-three patients (39 men and 14
women) with biopsy-proven ECD were followed-up between Nov. 1981 and Nov.
2010. Forty-six patients (87%) received interferon-alpha and/or PEGylated
interferon-alpha. Multivariate survival analysis using Cox proportional hazard model
revealed that CNS involvement was an independent predictor of death (Hazard
Ratio, HR: 2.51, CI95%: 1.28-5.52; p=0.006) in our cohort. Conversely, treatment
with interferon-alpha was identified as an independent predictor of survival (HR:
0.32, CI95%: 0.14-0.70; p=0.006). Although definitive confirmation would require a
randomized controlled trial, these results suggest that interferon-alpha improves
survival in ECD patients. This may be seen as a significant advance, as it is the
first time a treatment is shown to improve survival in this multisystemic disease with
high mortality.
21239701
Pg 62 of 139
12/2/2015
2011
Jan 4
Blood
Systemic
perturbation of
cytokine and
chemokine
networks in
Erdheim-Chester
disease: a singlecenter series of 37
patients.
Arnaud L,
Gorochov G,
Charlotte F,
Lvovschi V,
Parizot C,
Larsen M,
Ghillani-Dalbin
P, Hervier B,
Kahn JE,
Deback C,
Musset L,
Amoura Z,
Haroche J.
Departments of Internal
Medicine, Pathology,
Immunochemistry &
Virology, Hopital PitieSalpetriere, AP-HP,
Paris, France
2010
Nov
Ann Dermatol
Erdheim-chester
disease.
Kim MS, Kim
CH, Choi SJ,
Won CH, Chang
SE, Lee MW,
Choi JH, Moon
KC.
Mi-Woo Lee, M.D.,
Department of
Dermatology, Asan
Medical Center,
University of Ulsan
College of Medicine, 86
Asanbyeonwon-gil,
Songpa-gu, Seoul 138736, Korea. Tel: 82-23010-3460, Fax: 82-2486-7831, Email:
[email protected]
2010
Dec
12
J Cutan Pathol
Erdheim-Chester
disease presenting
with cutaneous
involvement: a
case report and
literature review.
Volpicelli ER,
Doyle L, Annes
JP, Murray MF,
Jacobsen E,
Murphy GF,
Saavedra AP
Arturo P. Saavedra, MD,
PhD, Department of
Dermatology, Brigham
and Women's Hospital,
Harvard Medical School,
221 Longwood Avenue,
Boston, MA 02115, USA
Tel: +1 617 732 4918
begin_of_the_skype_hig
hlighting
+1 617
732 4918
end_of_the_skype_highl
ighting Fax: +1 617 582
6060 e-mail:
[email protected]
g
Pg 63 of 139
Immunopathogenesis of Erdheim-Chester disease (ECD), a rare non-Langerhans
cell histiocytosis, is poorly known. In previous studies, various cytokines were
detected in ECD lesions, presumably orchestrating lesional histiocyte recruitment.
Since ECD lesions are frequently associated with systemic symptoms, we
postulated that underlying global immune perturbations might also be revealed. We
quantitatively analyzed 23 cytokines in serum samples obtained from a large
single-center cohort of 37 ECD patients, and studied the impact of treatment over
cytokine production. Interleukin (IL)-6, IL-12, interferon-alpha (IFN-α) and monocyte
chemotactic protein-1 (MCP-1) levels were significantly higher in untreated patients
than in controls, while interferon-γ inducible protein-10 (IP-10), IL-12, MCP-1, IL-1
receptor antagonist (IL1-RA) were found significantly increased in interferon-alpha
treated patients. A biomathematical approach was used to rationalize
multiparameter data, in order to generate new hypotheses and identify global
control pathways. Interestingly, cytokine profiles proved to be particularly stable at
the individual level, and an "ECD signature" further distinguished patients from
controls, based on their production of IFN-α, IL-12, MCP-1, IL-4 & IL-7. Altogether,
our data underline the systemic immune Th-1 oriented perturbation associated with
this condition, and provide clues for the choice of more focused therapeutic agents
in this rare disease with non-codified therapeutic management.
Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis of
unknown etiology, characterized by multi-organ involvement. ECD is usually
diagnosed on the basis of characteristic radiologic and histopathological findings.
Lesions may be skeletal and/or extraskeletal in location, and may include the skin,
lung, heart, and central nervous system. We describe here a 68-year-old man with
multiple yellowish plaques and a pinkish nodule on his face and scalp. He had
been previously diagnosed with diabetes insipidus, and recently complained of
coughing and dyspnea. Imaging studies showed multiple osteosclerotic lesions of
the bones, a moderate amount of pericardial effusion, and multifocal infiltrative
lesions in the perirenal space. Histopathological examination of the skin lesions
revealed dermal infiltration of foamy histiocytes with multinuclear giant cells.
Moreover, laparoscopic biopsy of the perirenal tissue revealed fibrosis with
infiltrating foamy histiocytes being CD68-positive and S100-negative. Based on
these findings, he was diagnosed with ECD with extraskeletal manifestations, and
treated with interferon-alpha.
Erdheim–Chester disease (ECD) is a rare, systemic, non-familial histiocytic
disorder, first described by Jakob Erdheim and William Chester in 1930. Most
patients have multiple sites of involvement at presentation. The most common site
of involvement is the long bones of the axial skeleton, which is seen almost
universally, followed by the nervous system, heart, lungs, orbit and
retroperitoneum, which are seen in up to 50% of cases.1 Cutaneous involvement is
rarely a presenting symptom of ECD, with two reported cases in the English
literature.2 The diagnosis of ECD is rarely made by skin biopsy because of the
relative rarity of cutaneous involvement as a presenting feature, and also perhaps
because of the difficulty in distinguishing the histopathological appearance from
potential mimics. The importance of distinguishing ECD from other cutaneous
disorders with similar pathology lies in the implications for both treatment and
prognosis. ECD is an aggressive, often fatal disorder, with death from disease
occurring in greater than 50% of patients.
12/2/2015
21205927
21165216
21143617
2010
Dec 7
Rheumatol Int
FDG-PET in the
Erdheim-Chester
disease: its
diagnostic and
follow-up role.
Steňová E,
Steňo B,
Povinec P,
Ondriaš F,
Rampalová J.
1st Department of
Internal Medicine,
Comenius University in
Bratislava, Bratislava,
Slovakia,
[email protected].
2010
Nov
Journal of
Clinical
Oncology
Response of
Histiocytoses to
Imatinib
Mesylate: Fire to
Ashes
The University of Texas
M. D. Anderson Cancer
Center, Houston, TX
2010
Nov
J Neurol
Neurosurg
Psychiatry
CP3 Progressive
ataxia with unusual
radiographic
findings
Filip Janku,
Hesham M.
Amin, Dan Yang,
Ignacio GarridoLaguna,
Jonathan C.
Trent,
and Razelle
Kurzrock
Marshall C,
Giovannoni G
2010
Respiratory
Medicine
CME (2010)
Pulmonary
Erdheim-Chester
disease: A
response to
predonisolone
Kumi Yoneda
Nagahama,
Takuo Hayashi,
Tetsutaro
Nagaoka, Ryota
Kanemaru,
Shinsaku Togo,
Toshio
Kumasaka,
Toshimasa
Uekusa, Kuniaki
Seyama,
Kazuhisa
Takahashi
Department of
Juntendo University
School of Medicine; 2-11 Hongo, Bunkyo-ku,
Tokyo 113-8421, Japan,
[email protected]
Pg 64 of 139
drcharlesmarshall@gma
il.com
A 62-year-old man presented with diabetes insipidus, pulmonary fibrosis, right atrial
tumor and bilateral knee osteoarthritis with cystic lesions of distal femur and
proximal tibia. Scintigraphy and histological examination of right femur bone biopsy
revealed changes characterized for Paget's disease. Re-evaluation of the computer
tomography (CT) scans and histological samples revealed diffuse infiltrates of
foamy histiocytes in the bone marrow what was consistent with Erdheim-Chester
disease. Positron emission tomography/computed tomography (PET/CT) was
performed to access the activity and extent of disease.
No abstract included. Final statement of paper states, “LCH and ECD are rare and
often difficult to treat disorders. Our observation suggests that imatinib may be an
effective treatment option for some patients with these diseases.”
21136259
A 72-year-old woman presented with a 2-year history of slowly progressive ataxia,
accompanied by 13&emsp14;kg weight loss. MRI imaging of the brain revealed T2weighted hyperintensities in the pons, midbrain and cerebellum. Multiple blood and
CSF investigations for metabolic, inflammatory, infective and genetic aetiologies
were negative or normal. A paraneoplastic cause was sought. CT revealed
circumferential sheathing of the thoracic and abdominal aorta by abnormal soft
tissue. The right kidney was enlarged, with perinephric enhancement and
stranding. There were sclerotic bone lesions in multiple ribs, the left humeral
midshaft, and both iliac blades. Coarsening of the trabecular pattern was seen in
the proximal femurs. Technetium bone scanning showed increased uptake in the
sclerotic lesions, and in a symmetrical diametaphyseal pattern in the distal femurs
and proximal tibiae. These imaging findings were recognised to be pathognomonic
for Erdheim Chester disease, a rare non-Langerhans histiocytosis. The diagnosis
was supported by biopsy of the periaortic soft tissue. Progressive ataxia has been
described in Erdheim Chester due to infiltration of the cerebellum by histiocytes,
but never as the presenting feature. This patient went on to develop other
manifestations of histiocytosis, including pituitary, cardiac and pulmonary
involvement. Treatment with interferon-α was initiated.
Erdheim-Chester disease (ECD) is a rare non-Langerhan’s cell histiocytosis of
unknown origin, involving multiple organs. The patient with ECD described here is
a 38-year-old man who was admitted to the hospital with dyspnea on exertion. His
chest radiograph revealed a diffuse reticulonodular shadow. After the videoassisted thoracoscopic surgery was performed, he was diagnosed as having ECD.
A brown eruption on his left temple, when tested by skin biopsy, proved to be ECD.
No lesions other than these on the lung and skin were identified, and oral
administration of predonisolone successfully treated both of them. Although
recovery has followed the administration of predonisolone and chemotherapy for
several patients with pulmonary ECD, this is the first report that predonisolone
alone provided clinical and objective recovery from pulmonary ECD. This outcome
indicates that, of all the many treatments tried for ECD, steroids may become the
first-line therapy for pulmonary involvement.
20972058
12/2/2015
2010
JulAug
Tumori
Polyostotic
sclerosing
histiocytosis
(Erdheim-Chester
disease) treated
with combined
vertebroplasty and
radiation therapy
Franco P, Filippi
AR, Ciammella
P, Botticella A,
Namysl-Kaletka
A, Ricardi U.
Department of Medical
and Surgical Sciences,
Radiation Oncology
Unit, University of
Torino, Ospedale S.
Giovanni Battista, Turin,
Italy.
pierfrancesco.franco@g
mail.com
2010
Oct 15
J Neuroradiol
Central nervous
system involvement
in systemic
diseases: Spectrum
of MRI findings
[Article in French]
Drier A,
Bonneville F,
Haroche J,
Amoura Z,
Dormont D,
Chiras J.
Service de
neuroradiologie, hôpital
Pitié-Salpêtrière, 47-83,
boulevard de l'Hôpital,
75013 Paris, France
2010
Oct 15
Clin Rheumatol
Erdheim-Chester
disease.
Akkara Veetil
BM, Luthra H.
2010
Sep
13
J Clin Neurosci
Surgical treatment
of intracranial
Erdheim-Chester
disease
Alfieri A, Gazzeri
R, Galarza M,
Neroni M
Division of
Rheumatology, Mayo
Clinic, 200 First St. SW,
Rochester, MN, 55905,
USA,
[email protected]
.in
Department of
Neurological Surgery,
Martin-Luther University
Halle-Wittenberg, ErnstGrube Straβe 40, Halle,
Germany
2010
JulAug
J Radiol
[Erdheim-Chester
disease with
mesenteric
involvement.]
[Article in French]
Lamboley J, Le
Moigne F, Felten
D, Crozes C,
Farthouat P,
Pavic M.
Pg 65 of 139
Erdheim-Chester disease is an uncommon form of non-Langherans-cell
histiocytosis, with a heterogeneous range of systemic manifestations and a pattern
of typical clinico-pathological and radiological features. Symmetric sclerotic
radiological alterations of the long bones are peculiar, such as the infiltration of
several organs by lipid-laden histiocytes. Radiation therapy has been anecdotally
employed in a palliative setting in order to relieve symptoms mainly due to cerebral,
retro-orbital and skeletal localizations. Exclusive osseous involvement is rarely
described in the medical literature. Moreover, the role, timing and schedule of
radiotherapy in this subset of patients remain controversial. We herein report on a
case of osseous-only Erdheim-Chester disease treated with a combined modality
approach including transoral vertebroplasty and external beam radiation therapy,
which gave an analgesic effect that lasted 1 year, with no treatment-related side
effects.
Central nervous system (CNS) involvement in systemic disease (SD) is unusual.
MRI features of such lesions are unfamiliar to most radiologists. The diagnosis of
SD is still based on clinical features and laboratory findings but some characteristic
MRI findings exist for each SD: micronodular leptomeningeal enhancement in
sarcoidosis, diffuse or focal pachymeningeal involvement in Wegener disease,
dentate nuclei and brain stem lesions in Langerhans cell histiocytosis, meningeal
masses, dentate nuclei lesions and periarterial infiltration in Erdheim-Chester
disease, meningeal masses in Rosai-Dorfman disease, veinular pontic lesions and
cerebral vein thrombosis in Behçet, supratentorial microvascular lesions in lupus
and antiphospholipid and Gougerot-Sjögren syndrome. In this work, we explain,
describe and illustrate the most characteristic MRI findings for each disease.
Erdheim-Chester disease is characterized by long bone pain and symmetric
sclerosis of the diametaphyseal portions of the long bones. It is an important
differential diagnosis of sclerotic disease of the bones.
20968148
We review the clinical presentation, radiological and histological characteristics,
and the natural history, of intracranial Erdheim-Chester disease (ECD). ECD is a
rare form of non-Langerhans histiocytosis that affects multiple organs. It is clinically
characterized by leg pain, exophthalmos and diabetes insipidus (DI). Central
nervous system involvement is rare, with only 27 patients reported in the
international literature. DI and cerebellar signs represent the most common
neurological symptoms. Its treatment is controversial. Intracranial surgical
procedures for ECD have been reported in 11 patients with a complete surgical
resection performed in six, and an intracerebral biopsy performed in five patients.
In seven patients the cranial procedures represented the initial diagnostic method.
Surgical resection and radiation therapy have been used in the further
management of these cerebral lesions.
20843693
Service d'Imagerie
médicale, Hôpital
d'instruction des armées
Desgenettes, 108,
boulevard Pinel, 69275
Lyon cedex 03.
20952066
20949296
20814365
12/2/2015
2010
Sep
J Rheumatol
Erdheim-Chester
disease
Lee Y, Pearce D.
2010
Aug
19
Blood
Rationale and
efficacy of
interleukin-1
targeting in
Erdheim-Chester
disease
Aouba A,
Georgin-Lavialle
S, Pagnoux C,
Martin Silva N,
Renand A,
Galateau-Salle
F, Le Toquin S,
Bensadoun H,
Larousserie F,
Silvera S,
Provost N,
Candon S, Seror
R, de Menthon
M, Hermine O,
Guillevin L,
Bienvenu B.
2010
Jul 26
Arthritis Rheum
Pulmonary
involvement in
Erdheim-Chester
disease: A singlecenter experience
of 34 patients and
review of the
literature
Arnaud L, Pierre
I, Beigelman C,
Capron F, Brun
AL, Rigolet A,
Girerd X, Weber
N, Piette JC,
Grenier PA,
Amoura Z,
Haroche J.
Pg 66 of 139
St. Michael's Hospital Medicine, 30 Bond St.,
Toronto, Ontario M5B
1W8, Canada.
[email protected]
n.ca
Medicine, French
National Referral Center
for Langerhans cell
histiocytosis, Hopital
Cochin, Universite de
Paris Descartes,
Assistance PubliqueHopitaux de Paris,
France
Medicine 2, PitiéSalpêtrière Hospital,
UPMC University Paris
6, AP-HP, 47-83 bd de
l'Hôpital, 75013, Paris,
France.
20810522
Erdheim-Chester's disease (ECD) pathophysiology remains largely unknown. Its
treatment is not codified and usually disappointing. Interferon-alpha (IFN-alpha)
therapy lacks efficacy for some life-threatening manifestations and has a poor
tolerance profile. Because IL1Ra synthesis is naturally induced after stimulation by
IFN-alpha, we hypothesized that recombinant IL1Ra (anakinra) might have some
efficacy in ECD. We treated 2 patients who had poor tolerance or contraindication
to IFN-alpha with anakinra as a rescue therapy and measured their serum Creactive protein (CRP), interleukin-(IL)-1beta, IL-6, and monocytic membranous IL1alpha (mIL-1alpha) levels prior, under and after therapy. Another untreated ECD
patient and 5 healthy subjects were taken as controls. After treatment, fever and
bone pains rapidly disappeared in both patients, as well as eyelid involvement in
one patient. In addition retroperitoneal fibrosis completely or partially regressed
and CRP, IL-6 and mIL-1alpha levels decreased to within the normal and controls
range. Beside injection site reactions, no adverse event was reported. Therefore,
our results support a central role of the IL1 network, which appeared to be
overstimulated in ECD. Its specific blockade using anakinra thereby opens new
pathophysiology and therapeutic perspectives in ECD.
20724540
20662053
OBJECTIVE: Erdheim-Chester disease (ECD) is a rare form of non-Langerhans'
cell histiocytosis that may present with pulmonary involvement. This study was
undertaken to evaluate the characteristic features of pulmonary involvement of
ECD, in the largest single-center series of patients reported to now. METHODS:
We performed a retrospective study of the characteristics of 34 consecutive biopsyproven ECD patients referred to the internal medicine department of PitiéSalpêtrière Hospital (Paris, France) between 1981 and Nov. 2008. RESULTS: Data
were obtained from 23 men and 11 women. Median age at diagnosis was 53.7 yrs
(range: 16-73 yrs) and median follow-up was 3.5 years (1.4-5.3 yrs). Eight patients
(26%) had pulmonary symptoms. High-resolution chest CT (HRCT)-scan revealed
involvement of lung parenchyma in 18 patients (53%), and of the pleura in 14
patients (41%). The bronchoalveolar lavage fluid analysis revealed presence of an
opalescent aspirate in all patients studied. Treatment with corticosteroids and/or
interferon-alpha resulted in a marked improvement of the pulmonary lesions only in
a single patient. Comparison of survival between patients with and without
pulmonary involvement yielded no significant difference (p=0.82). CONCLUSION:
Pulmonary involvement of ECD has been overlooked in previous reports. HRCT
reveals typical lesions in most patients. There is no clear response of these lesions
to corticosteroids and interferon alpha. The overall prognosis of the disease is
poor, but pulmonary involvement does not appear to be a major prognostic factor in
ECD.
12/2/2015
2010
Jul 23
Presse Med.
Erdheim-Chester
disease:
Radiological
findings
Versini M,
Jeandel PY,
Fuzibet JG,
Ianessi A,
Hauger O,
Amoretti N.
CHU de Nice, service de
médecine interne, 06202
Nice cedex 3, France.
20633
799
2010 Aug
Combined
Erdheim-Chester
disease and
Langerhans cell
histiocytosis of skin
are both
monoclonal: a rare
case with human
androgen-receptor
gene analysis.
Tsai JW, Tsou
JH, Hung LY,
Wu HB, Chang
KC
Department of
Anatomic Pathology, EDa Hospital, Kaohsiung
County, Taiwan.
2010
Jun 29
Pediatr Blood
Cancer
Chemotherapy and
interferon-alpha
treatment of
Erdheim-chester
disease.
Jeon IS, Lee SS,
Lee MK.
Department of
Pediatrics, Gil Medical
Center, Gachon Medical
School, Gachon
University of Medicine
and Science, Incheon,
Korea.
Pg 67 of 139
CONTEXT: Erdheim-Chester disease is a rare non-Langerhans form of
histiocytosis. For the past years, the disease has been reported with an increasing
frequency, linked to a better knowledge of it's radiological pattern. Indead, it shows
specific imaging appearances, that should be recognized. METHODS: We report
four cases illustrating those typical imaging findings. RESULTS: Common X-rays
films show bilateral and symmetric heterogeneous osteosclerosis of the metaphysis
and the diaphysis in the lower limbs long bones, with paget's disease-like pattern.
Magnetic resonance imaging depicts a replacement of the normal fatty bone
marrow by a heterogeneous high intensity signal infiltrate on T1 fat-suppressed
weighted imaging with intravenous injection of gadolinium and T2 fat-suppressed
weighted sequences, sparing the subchondral bone. Bone scintigraphy reveals a
pathognomonic bilateral and symmetric increased uptake affecting both diaphysis
and metaphysis of the femur and the tibiae. Tomodensitometry enable to disclose
visceral and vascular involvement, showing typical "hairy kidney" appearance and
perivascular infitration. CONCLUSION: Erdheim-Chester disease may be a lifethreatening disease. A good knowledge of it specific imaging features seems to be
crucial for early management and improved prognosis. (Article in French)
BACKGROUND: Erdheim-Chester disease (ECD) is a rare xanthogranulomatous
histiocytic disorder. Langerhans cell histiocytosis (LCH) is a proliferative disorder of
histiocytes with a phenotype similar to dendritic Langerhans cells. Both are derived
from myeloid stem cells in the bone marrow and, thus, can overlap. OBJECTIVE:
We report a rare case of hybrid LCH and ECD of the skin with systemic ECD.
METHODS: Pathologic examinations and human androgen-receptor gene assay
were used to study this case. RESULTS: A 34-year-old woman presented with
recurrent ulcerative skin lesions on both thighs associated with polydipsia and
polyuria since childhood. Radiography revealed osteosclerosis of bilateral distal
tibias and soft tissue masses of bilateral chest walls and ankles. Pathologically, the
chest wall lesions showed dense aggregates of lipid-laden histiocytes, which were
CD68(+)/CD163(+)/S100(-)/CD1a(-). Combined with the clinical and radiographic
findings, this xanthogranulomatous infiltrate was consistent with ECD. However,
thigh skin showed discrete foci of a xanthogranulomatous infiltrate and
S100(+)/CD1a(+) Langerhans cells with eosinophils. In addition, Birbeck granules
were found. Dissected tissues from both ECD and LCH were monoclonal,
supporting their neoplastic nature. LIMITATIONS: Single case report is a limitation.
CONCLUSION: ECD and LCH may have a close association with divergent
differentiation from the same stem cells under different microenvironmental
conditions.
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis of an
unknown origin. The prognosis of ECD is variable, and it mainly depends on the
involved anatomic sites. The treatment modalities have not been standardized.
Interferon-alpha (IFN) has been reported to be effective in the management of
ECD. We report here on an uncommon case with ECD in a 17-year-old female who
had multiple lesions in the whole body and she was treated with chemotherapy and
IFN. She has remained disease-free for 2 years after the completion of treatment.
Pediatr Blood Cancer (c) 2010 Wiley-Liss, Inc.
12/2/2015
20656448
20633799
20589628
2010
Jun 20
Eur Radiol.
Erdheim-Chester
disease: CT
findings of thoracic
involvement.
Brun AL,
TouitouGottenberg D,
Haroche J,
Toledano D,
Cluzel P,
BeigelmanAubry C, Piette
JC, Amoura Z,
Grenier PA.
Radiologie, Hôpital PitiéSalpêtrière, Assistance
Paris, Université Pierre
et Marie Curie, Paris VI,
Paris, France.
2010
Jun
15.
Intern Med.
A case of
osteoarthropathy
due to erdheimchester disease
with overlapping
Langerhans' cell
infiltration.
Naruse H,
Shoda H,
Okamoto A, Oka
T, Yamamoto K.
Department of Allergy
and Rheumatology,
Graduate School of
Medicine, the University
of Tokyo, Tokyo, Japan.
2010
Jun
Br J Neurosurg.
Erdheim-Chester
disease mimicking
multiple
meningiomas
Donaldson G,
Bullock P,
Monson JP.
2010
May
Acta Neurochir
Meningioma-like
lesions in Erdheim
Chester disease.
Naqi R,
Azeemuddin M,
Idrees R, Wasay
M.
The London Clinic
Centre for
Neurosurgery, London,
UK.
[email protected]
o.uk
Department of
Radiology, Aga Khan
University, Karachi,
Pakistan
Pg 68 of 139
OBJECTIVE: To retrospectively assess the association of mediastinal,
cardiovascular and pleuropulmonary findings on chest CT of 40 patients with
immunohistochemically and histologically proven Erdheim-Chester disease (ECD).
METHODS: The multidetector chest CT images of 40 ECD patients were reviewed
in consensus by chest and cardiovascular radiologists. RESULTS: Thirty-four
(85%) patients had periaortic infiltration that extended around the aortic branches
of 29 (73%). Perivascular infiltration extended into the cardiac sulci in 22 (55%) (p
< 0.005). Infiltration involved the right atrium wall in 12 patients, associated with
severe narrowing of the atrial lumen in 8. Pericardial effusion and/or thickening
were observed in 24 (60%) patients. Lung involvement, seen in 22 (55%) patients,
was associated with mediastinal infiltration (20; p < 0.005) and pleural thickening or
effusion (16; p = 0.001); it consisted of smooth interlobular septa (21), subpleural
thickening (13), poorly defined centrilobular nodular opacities (9), ground-glass
opacities (8) and/or lung cysts (5). CONCLUSION: The detailed description of
thoracic ECD involvement seen in these patients showed that infiltration into the
mediastinal spaces including the pericardium, coronary sulci and right atrium is
frequently associated with pleural and interstitial lung diseases.
Histiocytosis sometimes involves the joints, and is one of the important differential
diagnoses of osteoarthropathy. A 31-year-old man presented with recurrent fever
and bilateral knee arthritis two years prior to admission. He also showed the
hypopituitary mass lesion and partial hypopituitarism. X-ray studies showed both
osteosclerotic and osteolytic lesions near the large joints. Histological findings of
bone biopsy revealed foamy macrophage infiltration, which were CD68+CD1aS100-, and Erdheim-Chester disease was diagnosed. In addition, CD68+CD1a+
Langerhans' cells also aggregated in the same lesions, and we thought this case
was a rare variant of Erdheim-Chester disease with overlapping histiocytic
invasion.
Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis with systemic
manifestations. We present a case report of a patient initially diagnosed with
multiple meningiomas, wherein an orbital biopsy disclosed the true nature of the
disease.
20563815
20558949
20465459
20449616
12/2/2015
2010
Pg 69 of 139
RSNA
Cerebral, Facial,
and Orbital
Involvement in
Erdheim-Chester
Disease: CT and
MR Imaging
Findings
Aurélie Drier,
MD, Julien
Haroche, MD,
PhD, Julien
Savatovsky, MD,
Gaelle
Godenèche, MD,
Didier Dormont,
MD, Jacques
Chiras, MD,
Zahir Amoura,
MD and Fabrice
Bonneville, MD,
PhD
[email protected]
Purpose: To retrospectively review the brain magnetic resonance (MR) imaging
and computed tomographic (CT) findings in patients with Erdheim-Chester disease
(ECD).
Materials and Methods: The ethics committee required neither institutional review
board approval nor informed patient consent for retrospective analyses of the
patients’ medical records and imaging data. The patients’ medical files were
retrospectively reviewed in accordance with human subject research protocols.
Three neuroradiologists in consensus analyzed the signal intensity, location, size,
number, and gadolinium uptake of lesions detected on brain MR images obtained
in 33 patients with biopsy-proved ECD.
Results: Thirty patients had intracranial, facial bone, and/or orbital involvement,
and three had normal neurologic imaging findings. The hypothalamic-pituitary axis
was involved in 16 (53%) of the 30 patients, with six (20%) cases of micronodular
or nodular masses of the infundibular stalk. Meningeal lesions were observed in
seven (23%) patients. Three (10%) patients had bilateral symmetric T2 high signal
intensity in the dentate nucleus areas, and five (17%) had multiple intraaxial
enhancing masses. Striking intracranial periarterial infiltration was observed in
three (10%) patients. Another patient (3%) had a lesion in the lumen of the superior
sagittal sinus. Nine (30%) patients had orbital involvement. Twenty-four (80%)
patients had osteosclerosis of the facial and/or skull bones. At least two anatomic
sites were involved in two-thirds (n = 20) of the patients. Osteosclerosis of the
facial bones associated with orbital masses and either meningeal or infundibular
stalk masses was seen in eight (27%) patients.
12/2/2015
20413768
2010
JanApr
Hell J Nucl Med.
Erdheim-Chester's
disease as a
differential
diagnosis of "hot"
kidneys on bone
scintigraphy.
Javadi H, Malek
H, Neshandar
Asli I,
Mogharrabi M,
Assadi M.
Medicine, 5-Azar
Hospital, Golestan
Science Gorgan, Iran.
[email protected]
.
To the Editor: We read with interest a case of Erdheim-Chester disease (ECD)
published in HJNM 2008; 10: 164-167 and we would like to present another case
which differs from the above as having an unusual bone involvement and "hot"
kidneys on bone scintigraphy. The patient was a 46 years old man admitted for
evaluation of the pain that he had in his lower limbs for the last 3 years. He also
had weakness, weight loss and diabetes insipidus. Physical examination revealed
pitting edema of the lower limbs and some cutaneous xanthelasmata. Serum
creatinine was normal. Sonography of the kidneys demonstrated increased renal
size (145x67x28mm for left kidney and 140x66x24mm for right kidney) and some
corticomedullary loss of image differentiation without evidence of obstructive
calyceal dilatation. X-rays of both proximal and distal femora showed symmetric
metaphyseal and diaphyseal involvement of lesions including mixed osteosclerosis
and lytic areas. Bone scintigraphy with technetium-99m-methylene diphosphonate
((99m)Tc-MDP) revealed multiple bone involvement. Sites of symmetrical
increased radionuclide uptake included humeri, scapulae, radii, femori, tibiae,
tarsal and metatarsal bones. Right iliac bone also showed focal hyperactivity. The
skull and the vertebral column were intact. Furthermore, both kidneys
demonstrated markedly increased radionuclide uptake. The patient had not taken
any nephrotoxic drugs before or during our examination. Bone biopsy from right
femoral lateral epicondyle showed fibro-collagenous and fatty tissue infiltrated by
clusters of foamy histocytes with central vesicular nuclear and abundant
vacuolated cytoplasm. Some touton-shape giant cells were noted. There was also
small aggregation of histiocytic like cells with eosinophillic cytoplasm and ovaloid
nuclei. Renal biopsy demonstrated similar parenchymal infiltration. These
pathologic findings supported the diagnosis of ECD.. Our case demonstrated
bilaterally marked renal radionuclide uptake resulting from bilateral renal
parenchymal involvement. In addition, there was an unusual asymmetry in size of
both kidneys that could be due to different involvement of each kidney. To the best
of our knowledge, there are few reported cases of ECD that had significantly high
renal parenchymal uptake of the bone imaging agent, althouth nephromegaly and
"hairy kidney" appearance on an abdominal CT have been reported. Thus ECD
should be considered in the spectrum of differential diagnosis of "hot" kidneys on
radionuclide bone scanning. In addition, "hot" kidneys may imply renal
parenchymal involvement during disease progression. In conclusion, besides other
typical bone scan findings, Erdheim-Chester disease should be considered in the
spectrum of differential diagnosis of "hot" kidneys on bone scintigraphy.
20411179
2010
Apr 20
Eur J
Echocardiogr
Multimodality
imaging showing
complete
cardiovascular
involvement by
Erdheim-Chester
disease.
Alharthi MS,
Calleja A, Panse
P, Appleton C,
Jaroszewski DE,
Tazelaar HD,
Mookadam F.
Cardiovascular Division,
Internal Medicine
Department, Mayo Clinic
Arizona, Scottsdale, AZ,
USA.
Erdheim-Chester disease (ECD) is a multisystem non-Langerhans form of cell
histiocytosis. Histiocytic infiltration leads to xanthogranulomatous infiltrates of
multiple organ systems. Erdheim-Chester disease was first reported in1930, only
320 cases reported in the literature. Cardiac involvement in ECD carries worst
prognosis beside the central nervous system. We report the first case with pancardiac involvement diagnosed with multimodality imaging.
20406735
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12/2/2015
2010
Mar
10
Pg 71 of 139
Neuropathology
Non-Langerhans
cell histiocytosis
with isolated CNS
involvement: An
unusual variant of
Erdheim-Chester
disease
Conley A,
Manjila S, Guan
H, Guthikonda
M, Kupsky WJ,
Mittal S.
Department of
Neurosurgery,
Karmanos Cancer
Institute, Wayne State
University, and Detroit
Medical Center, Detroit,
MI, USA.
Benign histiocytic proliferations are identified by their component cells and
classified as either Langerhans cell histiocytosis or non-Langerhans cell
histiocytosis. We report a 58-year-old Caucasian woman who presented with
diabetes insipidus and was found to harbor a large suprasellar mass.
Histopathological analysis was consistent with non-LCH. The differential diagnoses
included juvenile xanthogranuloma, adult-onset xanthogranuloma, xanthoma
disseminatum, Rosai-Dorfman disease, and Erdheim-Chester disease.
Immunohistochemical examination demonstrated a proliferation of large lipid-laden
histiocytic cells which were positive for CD68, negative for S100 protein, and
showed only faint, background staining for CD1a. We present a case of an
autopsy-confirmed non-Langerhans cell histiocytosis limited to the central nervous
system and evaluated with both immunohistochemical and ultrastructural studies.
Based on the multifocality, anatomic distribution, and immunostaining features, a
diagnosis of Erdheim-Chester disease was made. This is only the second reported
case of Erdheim-Chester disease with intracranial involvement but absence of
extracerebral manifestations. Given the overlapping clinicopathologic, radiographic,
and immunohistochemical profiles, differentiating between these rare histiocytic
disorders can often present a significant diagnostic challenge. A systematic
approach using all available clinical, laboratory, radiographic, histologic,
immunohistochemical and ultrastructural data is essential for proper discrimination
between the numerous histiocytoses.
12/2/2015
20337948
2010
Feb
Vnitr Lek.
Central diabetes
insipidus in adult
patients--the first
sign of Langerhans
cell histiocytosis
and ErdheimChester disease.
Three case studies
and literature
review
2010
Mar
Neth J Med
An X-ray that helps
to solve the puzzle.
Bech AP,
Reichert LJ.
2010
Mar
20
Med Clin (Barc).
Erdheim-Chester
disease with bone
lesion and
retroperitoneal
fibrosis
Rodríguez Avila
EE, Rubio
Barbón S,
Fonseca Aizpuru
EM, De La
Tassa JM.
Pg 72 of 139
Central diabetes insipidus with an onset in adulthood is very rare. Unlike in
children, central diabetes insipidus in adults is more frequently caused by
inflammatory processes and neoplastic infiltrations that do not originate from the
neuronal tissue than primary neuronal tissue tumours. Rare histiocytic neoplasias
(Langerhans cell histiocytosis, xanthogranulomatosis and Erdheim-Chester
disease) have a specific affinity to hypothalamus and the pituitary stalk not only in
paediatric patients but also when occurring in adults. We describe 3 cases of
central diabetes insipidus with an onset in adulthood. Diabetes insipidus was the
first sign of Langerhans cell histiocytosis in 2 patients, and it was the first sign of
Erdheim-Chester disease in one patient. MR imaging showed pathological
infiltration and dilated pituitary stalks in all 3 patients. PET-CT proved useful in
differential diagnosis, showing further extracranial pathological changes either on
the basis of significant glucose accumulation or on the basis of CT imaging. The
Langerhans cell histiocytosis in the first patient has also manifested itself as an
infiltration of the perianal area with intensive accumulation of fluorodeoxyglucose
(FDG) - SUV 8.6 and gingival inflammation indistinguishable from parodontosis.
Histology of the perianal infiltrate confirmed Langerhans cell histiocytosis.
Infiltration of the pituitary stalk disappeared from the MR image after 4 cycles of 2chlordeoxyadenosin (5 mg/m2 5 consecutive days). The PET-CT of the 2nd patient
showed only borderline accumulation of FDG in the ENT area, while
simultaneously performed CT imaging showed cystic restructuring of the pulmonary
parenchyma and nodulations consistent with pulmonary Langerhans cell
histiocytosis. Bronchoalveolar lavage identified higher number of CD1 and S100
positive elements, consistent, once again, with pulmonary LCH also affecting
pituitary stalk and ear canal. The PET-CT of the third patient showed increased
activity in the long bones and ilium near the sacroiliac joint. Biopsy of the focus in
the ilium confirmed foam histiocyte infiltration immunochemically corresponding to
Erdheim-Chester disease. Additional imaging assessments revealed the presence
of further signs of the disease. Pituitary infiltrate biopsy in this patient did not
elucidate the diagnosis but resulted in complete panhypopituarism. Central
diabetes insipidus in adulthood might be the first sign of so far undiagnosed
extracranial disease, in our case of histiocytic neoplasias, and PET-CT has an
excellent potential to detect extracranial symptoms of these conditions. Therefore,
the high-risk pituitary stalk infiltrate biopsy should always be preceded by
comprehensive examination aimed at identification of extracranial manifestations of
the pituitary gland diseases.
Medicine, Rijnstate
Hospital, Arnhem, the
Netherlands.
[email protected]
m
Interna, Hospital de
Cabueñes, Gijón,
Asturias, España.
20329585
20308710
20307894
12/2/2015
2010
Mar
16
Int Urol Nephrol
Erdheim-Chester
disease as cause
of end-stage renal
failure: a case
report and review
of the literature
Histiocytic
disorders with
orbital involvement
Sanchez JE,
Mora C, Macia
M, Navarro JF.
Central de Asturias,
Oviedo, Spain,
[email protected].
20232144
2010
Mar
10
Neurochirurgie
Civit T, ColnatCoulbois S,
Marie B.
20226484
Am J Surg
Pathol
Erdheim-Chester
Disease Presenting
as Bilateral
Clinically Malignant
Breast Masses
Provenzano E,
Barter SJ, Wright
PA, Forouhi P,
Allibone R, Ellis
IO
Département de
neurochirurgie, hôpital
Central, CHU de Nancy,
29, avenue de Lattre-deTassigny, 54000 Nancy,
France. [email protected]
Departments of
*Histopathology
daggerRadiology double
daggerSurgery,
Addenbrookes Hospital
and Cambridge Breast
Unit, Cambridge UK
section signDepartment
of Histopathology,
Nottingham University
Hospitals NHS Trust,
Nottingham
2010
Mar 4
2010
Mar
J Neurosurg
Spine
Atypical spine
involvement of
Erdheim-Chester
disease in an
elderly male
Allmendinger
AM, Krauthamer
AV, Spektor V,
Aziz MS, Zablow
B
Department of
Radiology and
Pathology, St. Vincent's
Catholic Medical Center,
New York, New York
10011, USA.
amallmendinger@gmail.
com
2010
Mar
Clin Radiol.
Erdheim-Chester
disease presenting
with destruction of
a metacarpal.
Davies AM,
Colley SP,
James SL,
Sumathi VP,
Grimer RJ.
Department of
Radiology, Royal
Orthopaedic Hospital,
Birmingham B31 2AP,
United Kingdom.
Pg 73 of 139
Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis of unknown
etiology, the commonest sites of involvement being the long bones, skin, orbit,
pituitary and retroperitoneum. Breast involvement is rare, with only four reported
cases in the English literature. We present a case of a 78-year-old female
presenting with bilateral clinically malignant breast masses, with mammographic
and ultrasound findings suggestive of locally advanced bilateral breast cancer.
Core biopsies from both breasts showed identical features, with a diffuse
xanthomatous infiltrate with scattered Touton-type giant cells and a patchy
lymphocytic infiltrate. The cells were CD68 positive, and negative for S100, CD1a
and a broad panel of cytokeratins. The patient has a background history of
cerebrovascular disease with carotid artery stenosis, and subsequently developed
rapid restenosis after carotid endarterectomy. With the combined clinical history
and classic histological findings in the breast, a diagnosis of Erdheim-Chester
disease was made. This is the fifth case report of Erdheim-Chester disease
involving the breast, and only the second case with breast lesions as the
presenting symptom. Perivascular infiltration is also a rare but recognized
presentation of Erdheim-Chester disease. Histiocytic proliferations including ECD
can mimic breast carcinoma clinically, radiologically, and histologically, and should
be considered in the differential diagnosis of breast mass lesions.
Erdheim-Chester disease is a rare form of non-Langerhans histiocytosis presenting
in the 5th through 7th decades of life. Osseous manifestations include symmetrical
sclerosis of the long bones and, rarely, the spine. Central nervous system disease
commonly affects the white matter tracts as well as the orbits, but epidural disease
is rare. To the best of the authors' knowledge, simultaneous epidural and skeletal
spine disease has not been reported. The MR imaging characteristics of skeletal
spine disease have also not been reported. The authors describe the case of an
87-year-old man with both epidural and skeletal spine disease. The clinical
characteristics, imaging manifestations, and the histological features are
discussed.
20216377
20192624
20152283
12/2/2015
2010
Jan 22
Rheumatology
Erdheim-Chester
disease: report on
a case and new
insights on its
immunopathogenes
is
Dagna L,
Girlanda S,
Langheim S,
Rizzo N, Bozzolo
EP, Sabbadini
MG, Ferrarini M.
2009
Dec
Vnitr Lek
Diabetes insipidus
followed, after 4
years, with
dysarthria and mild
right-sided
hemiparesis--the
first clinical signs of
Erdheim-Chester
disease.
Description and
depiction of a case
with a review of
information on the
disease
Adam Z,
Balsíková K,
Pour L, Krejcí M,
Svacina P,
Dufek M, Kren L,
Hermanová M,
Moulis M,
Vanícek J,
Neubauer J,
Mechl M, Prásek
J, Stanícek J,
Koukalová R,
Hájek R, Mayer
J.
Pg 74 of 139
Marina Ferrarini,
Laboratory of Tumor
Immunology,
Department of
Oncology, Scientific
Institute
H. S. Raffaele, via
Olgettina 60, I-20132
Milano, Italy.
E-mail:
[email protected]
Interní hematologická
klinika Lékarské fakulty
MU a FN Brno.
[email protected]
20097905
In 2004, diabetes insipidus was the first clinical sign of Erdheim-Chester disease in
our patient. Following introduction of substitution therapy with adiuretin, the patient
had no further health complaints for four years until 2008 when he gradually
developed dysarthria and, consequently, movement disorder in the form of mild
right hemiparesis. The first CNS CT scan (2004) did not reveal any pathology. The
first pathological MRI of the brain in 2006 - thickening of pituitary stalk by
pathological infiltration to 4-5 mm. During the following year, further infiltrates were
detected in the CNS. The number and size of CNS infiltrates increased gradually
on MRIs performed repeatedly up to 2008. Erdheim-Chester disease has become
suspected based on PET-CT examination at the end of 2008. CT showed irregular
structure of the skeleton with noticeable sclerotic foci in otherwise osteoporotic
bone structure; changes were the most evident in the long bones of lower limbs, in
the pelvic bones, skull and arms, while only one vertebra was affected from within
the entire spine. Finding ofthickened aortic wall (up to 8 mm) as another
pathological circumstance was consistent with the Erdheim-Chester diseaseassociated changes described as coated aorta. CT scan revealed clear fibrotic
changes in the area of retroperitoneum. Applied fluorodeoxyglucose has
accumulated in the bone foci described on CTscans as well as in the thickened
wall ofthe thoracic and abdominal aorta (SUV 3.6). Tc-pyrophosphonate skeleton
scintigraphy showed the same bone foci as PET-CT. Full body MRI showed
pathological signal from the bone marrow of the above mentioned locations,
particularly during STIR imagining, where there was clear abnormal signal
corresponding to accumulated histiocytes, the higher signal of which was welldifferentiated from the normal bone marrow. Measurement of bone mineral density
with DEXA confirmed reduced density in lumbar vertebrae to the average value of 2.7 SD (the lowest value was -3.1SD). The disease is associated with elevated
inflammatory parameters: leucocytosis, thrombocytosis, elevated CRP and
fibrinogen levels. Diagnosis was verified following histological assessment ofiliac
bone marrow, where focal infiltrations with foamy histiocytes of typical
immunophenotype (CD68+, CD1a-, S100-) were confirmed. Treatment was
initiated with chemotherapy consisting of 2g/m2 of cyclophosphamide on day 1 and
200 mg/m2 of etoposide IV infusion on days 1-3, and followed by administration of
5 microg/kg of G-CSF and collection of haematopoietic peripheral blood stem cells
(PBSC). PBSC collection was followed by 5-day administration of 5 mg/m2/day of
2-chlorodeoxyadenosine (Litac) administered to the patient at monthly intervals.
12/2/2015
20070034
2010
Jan 5
Acta
Neurochirurgica
2010
Jan;17
Adv Anat Pathol
2009
Dec
15
2009
Dec
Pg 75 of 139
Neurosurgical
biopsy as the initial
diagnosis of
xanthogranuloma
of the ErdheimChester disease
variety of the
infundibulum and
optic apparatus:
letter to the editor
Histiocytic
disorders of the
lung
Abla AA, Wilson
DA, Eschbacher
JM, Spetzler RF.
Neuroscience
Publications; Barrow
Neurological Institute,
St. Joseph’s Hospital
and Medical Center, 350
W. Thomas Road,
Phoenix, AZ 85013,
USA
[email protected]
Nagarjun Rao R,
Moran CA,
Suster S.
Department of
Pathology, Medical
College of Wisconsin,
Milwaukee, 53226, USA.
[email protected]
Neurology
Characteristic brain
MRI appearance of
erdheim-chester
disease.
Bianco F,
Iacovelli E,
Tinelli E,
Locuratolo N,
Pauri F,
Fattapposta F.
Arch Pathol Lab
Med.
Adult orbital
xanthogranulomato
us disease: review
of the literature.
Guo J, Wang J.
Department of
Neurology and ENT,
Neuroradiology Unit,
University of Rome,
"Sapienza," Viale
Università 30, 00185
Rome, Italy;
federico.bianco@unirom
a1.it
Department of
Pathology and
Medical Center, Loma
Linda, California 92354,
USA. [email protected]
20049489
Histiocytic proliferations involving the lung span a broad spectrum. Some
proliferations are primary; others represent a histiocytic response secondary to
conditions in which there may be isolated lung involvement or the lung may be
involved as part of a systemic process. Primary histiocytic lung disorders,
particularly those of uncertain histogenesis are a heterogeneous and intriguing
group of disorders. Although they have been the focus of attention by clinicians and
pathologists alike, much is unknown about their etiopathogenesis. Owing to this
uncertainty, our understanding of these processes is in a state of flux, and is likely
to change as more information is brought to light. This review will focus on
pulmonary histiocytic proliferations of uncertain histogenesis. Other histiocytic
lesions will be dealt with in brief.
20032634
20018640
This article provides an overview of the pathologic features of adult orbital
xanthogranulomatous disease, a rare heterogeneous group of disorders that
includes 4 clinical syndromes: adult-onset xanthogranuloma, necrobiotic
xanthogranuloma, adult-onset asthma and periocular xanthogranuloma, and
Erdheim-Chester disease. The diagnosis is made by biopsy of the lesion,
demonstrating tissue infiltration by the hallmarks of xanthoma cells and Touton
giant cells. The differential diagnosis is broad, including syndromes within the adult
xanthogranulomatous disease category as well as other entities involving the eyelid
and the orbital tissues. Because of its rarity and sometimes close similarity to other
disease entities, it is often misdiagnosed initially. This article focuses on the
morphology and immunohistochemical patterns in diagnosis of adult orbital
xanthogranulomatous disease with emphasis on adult-onset asthma and periocular
xanthogranuloma in particular, its clinical features and associated systemic
manifestations in differential diagnosis, as well as the current management
strategy.
12/2/2015
19961259
2009
Acta
Ophthalmol
Azathioprine and
prednisone
combination
treatment for adult
periocular and
orbital
xanthogranulomato
us disease
Ward R.
Bijlsma,1 Willem
A. van den
Bosch,2
Paul L. A. van
Daele3 and Dion
Paridaens
Ward R. Bijlsma
University Medical
Centre Utrecht
Department of
Ophthalmology
Heidelberglaan 100
3584 CX Utrecht
The Netherlands.
Tel: +31 88 755 1683
Fax: + 31 88 755 5417
Email:
w.r.bijlsma@umcutrecht.
nl
2009
Oct
Best Pract Res
Clin Endocrinol
Metab.
Pituitary tumours:
inflammatory and
granulomatous
expansive lesions
of the pituitary
Carpinteri R,
Patelli I,
Casanueva FF,
Giustina A.
and Surgical Sciences,
University of Brescia,
Endocrine Service,
Montichiari Hospital, via
Ciotti 154, 25018
Montichiari, Italy.
Pg 76 of 139
Purpose: To report the authors’ experience with azathioprine and prednisone
combination for adult periocular and orbital xanthogranulomatous disease.
Methods: We identified 13 adults with histology-proven periocular or orbital
xanthogranuloma in two tertiary referral orbital centres from 1984 to 2008.
Patient records were reviewed and data collected on orbital localization,
immune dysfunction, applied treatment and outcome.
Results: Five patients with periocular or orbital xanthogranulomatous disease
were fully treated with prednisone and azathioprine combination, which
resulted in stabilization in two and regression in three. Two other patients had
to discontinue azathioprine because of side-effects. Of the non-fully treated
prednisone ⁄ azathioprine patients, four out of eight progressed.
Conclusion: In adult periocular and orbital xanthogranuloma, combined treatment
with prednisone and azathioprine yields adequate immunosuppression,
often for a prolonged period of time.
Inflammatory and granulomatous diseases of the pituitary are rare causes of sellar
masses. Lymphocytic hypophysitis is the most relevant of these disorders, and it is
characterised by autoimmune pathogenesis with focal or diffuse inflammatory
infiltration and varying degrees of pituitary gland destruction. Endocrine symptoms
may include partial or total hypopituitarism, with adrenocorticotropic hormone
(ACTH) deficiency being the earliest and most frequent alteration. Pituitary abscess
is a rare but potentially life-threatening disease and, in 30-50% of patients, anterior
pituitary hormone deficiencies or central diabetes insipidus (DI) at onset may be
observed: the earliest manifestation being growth hormone deficiency (GHD),
followed by follicle-stimulating hormone (FSH)/luteinising hormone (LH), thyroidstimulating hormone (TSH) and ACTH deficiencies. Fungal infections of the
pituitary are also very rare and include aspergillosis and coccidioidomycosis.
Concerning pituitary involvement in systemic diseases, in sarcoidosis endocrine
complications are rare, but the hypothalamus and pituitary are the glands most
commonly affected. DI is reported in approximately 25-33 % of all neurosarcoidosis
cases and is the most frequently observed endocrine disorder.
Hyperprolactinaemia and anterior pituitary deficiencies may also occur. Rarely,
partial or global anterior pituitary dysfunction may be present also in Wegener's
granulomatosis, either at onset or in the course of the disease, resulting in
deficiency of one or more of the pituitary axes. Other forms of granulomatous
pituitary lesions include idiopathic giant cell granulomatous hypophysitis,
Takayasu's disease, Cogan's syndrome and Crohn's disease. The hypotalamicpituitary system is involved mainly in children with Langerhans' cells histiocytosis
who develop DI, which is the most common endocrine manifestation. Anterior
pituitary dysfunction is found more rarely and is almost invariably associated with
DI. Pituitary involvement may also be observed in another form of systemic
hystiocitosis, that is, Erdheim-Chester disease. Tuberculosis is a rare cause of
hypophysitis. In conclusion, in patients with a sellar mass and unusual clinical
presentation (DI, neurological symptoms), aggressiveness and onset and in the
presence of systemic diseases, inflammatory and granulomatous pituitary lesions
should be carefully considered in differential diagnosis.
12/2/2015
19945028
2009
Nov
14
Radiol Med.
Erdheim-Chester
disease: clinical
and radiological
findings
De Filippo M,
Ingegnoli A,
Carloni A,
Verardo E,
Sverzellati N,
Onniboni M,
Corsi A,
Tomassetti S,
Mazzei M,
Volterrani L,
Poletti V,
Zompatori M.
Dipartimento di Scienze
Cliniche, Sezione di
Scienze Radiologiche,
Università degli Studi di
Parma, Parma, Italy,
massimo.defilippo@unip
r.it.
2009
Oct 12
Eur Heart J
Mileto A, Di Bella
G, Gaeta M
Department of
Radiological Sciences,
Policlinico 'G. Martino',
University of Messina,
Messina, Italy
2009
Sep
29
Arthritis Rheum.
Cardiac magnetic
resonance
characterization of
atrial pseudo-mass
in Erdheim-Chester
disease
(18)Ffluorodeoxyglucose
-positron emission
tomography
scanning is more
useful in followup
than in the initial
assessment of
patients with
Erdheim-Chester
disease.
Arnaud L, Malek
Z, Archambaud
F, Kas A,
Toledano D,
Drier A, Zeitoun
D, Cluzel P,
Grenier PA,
Chiras J, Piette
JC, Amoura Z,
Haroche J.
Assistance PubliqueHôpitaux de Paris, and
Université Paris 6, Paris,
France.
Pg 77 of 139
PURPOSE: The authors retrospectively reviewed six cases of histologically proven
Erdheim-Chester disease (ECD) to evaluate organ involvement and clinical and
radiological findings. MATERIALS AND METHODS: Through a search of the
pathology databases of four Italian hospitals, we identified six men (mean age, 56
years) with a histological diagnosis of ECD. Histology was performed on
retroperitoneal or pulmonary biopsy, depending on disease involvement on
imaging. Patients underwent plain radiography of the lower limbs and chest, totalbody computed tomography (CT) and bone scintigraphy. Magnetic resonance (MR)
imaging was performed in two patients to evaluate the lower limbs and in one
patient to study the brain, the chest and the abdomen. RESULTS: Clinical
manifestations included dyspnoea (n=2), hydronephrosis (n=2) and bone pain
(n=1). Bilateral symmetrical osteosclerosis of the metaphyseal and diaphyseal
portions of the lower-limb long bones was present in five patients. Imaging studies
revealed extraskeletal manifestations in all patients, including involvement of the
retroperitoneal space (n=4), the lung (n=4) and the heart (n=2). CONCLUSIONS:
ECD is a multiorgan disease that displays constant involvement of the bones and
retroperitoneum; in particular, of the perirenal fat. Although the diagnosis of ECD is
histological, imaging can raise suspicion and help to establish a presumptive
diagnosis.
19915998
19825811
OBJECTIVE: Erdheim-Chester disease (ECD) is a rare form of non-Langerhans'
cell histiocytosis. The aim of this study was to assess the value of whole-body
scanning with (18)F-fluorodeoxyglucose-positron emission tomography (FDG-PET)
in a large cohort of ECD patients from a single center. METHODS: We
retrospectively reviewed all PET scans performed on 31 patients with ECD who
were referred to our department between 2005 and 2008. PET images were
reviewed by 2 independent nuclear medicine specialist physicians and were
compared with other imaging modalities performed within 15 days of each PET
scan. RESULTS: Thirty-one patients (10 women and 21 men; median age 59.5
years) underwent a total of 65 PET scans. Twenty-three patients (74%) were
untreated at the time of the initial PET scan, whereas 30 of the 34 followup PET
scans (88%) were performed in patients who were undergoing immunomodulatory
therapy. Comparison of the initial and followup PET scans with other imaging
modalities revealed that the sensitivity of PET scanning varied greatly among the
different organs studied (range 4.3-100%), while the specificity remained high
(range 69.2-100%). Followup PET scans were particularly helpful in assessing
central nervous system (CNS) involvement, since the PET scan was able to detect
an early therapeutic response of CNS lesions, even before magnetic resonance
imaging showed a decrease in their size. PET scanning was also very helpful in
evaluating the cardiovascular system, which is a major prognostic factor in ECD, by
assessing the heart and the entire vascular tree during a single session.
CONCLUSION: The results of our large, single-center, retrospective study suggest
that the findings of a FDG-PET scan may be interesting in the initial assessment of
patients with ECD, but its greater contribution is in followup of these patients.
12/2/2015
19790052
2009
Sep
AJR Am J
Roentgenol.
AJR teaching file: A
rare multisystem
disease with
distinctive
radiologicpathologic findings
Venkatanarasim
ha N, Garrido
MC, Puckett M,
White P.
2009
Sep
25
Ophthalmologe
Erdheim-Chester
disease of the orbit
with compressive
optic neuropathy.
Manousaridis
HK, Casper J,
Schittkowski MP,
Nizze H, Guthoff
RF
Department of
Radiology, Torbay
General Hospital, Lawes
Bridge, Torquay, Devon,
United
Kingdom. nandashettykv
@yahoo.com
Klinik und Poliklinik für
Augenheilkunde,
Universität Rostock,
Doberanerstrasse 140,
18055, Rostock,
Deutschland
klemanousaridis@kabel
mail.de
Department of
Pediatrics, Pediatric
Rheumatology, Bicêtre
University Hospital, Le
Kremlin Bicêtre, France
2009
Sep
14
J Pediatr
Hematol Oncol.
Erdheim-Chester
Disease in
Childhood: A
Challenging
Diagnosis and
Treatment.
Tran TA, Fabre
M, Pariente D,
Craiu I, Haroche
J, Charlotte F,
Eid P, Durrbach
A, Taoufik Y,
Kone-Paut I.
2009
Sep
Clin Nucl Med
Intensely
hypermetabolic
extra-axial
brainstem tumor in
Erdheim-chester
disease
Tan IB, Padhy
AK, Thng CH,
Osmany S,
Magsombol B,
Ho YH, Tham
CK, Quek R, Tao
M, Lim ST
Oncology , National
Cancer Centre,
Singapore, Singapore
2009
Aug
11
Leuk Res.
Erdheim-Chester
disease:
Multisystem
involvement and
management with
interferon-alpha
Suzuki HI,
Hosoya N,
Miyagawa K, Ota
S, Nakashima H,
Makita N,
Kurokawa M
Department of
Hematology and
Oncology, Graduate
School of Medicine,
University of Tokyo, 7-31 Hongo, Bunkyo-ku,
Tokyo 113-8655, Japan
Pg 78 of 139
19696245
A 60-year-old man presented with left exophthalmos and deterioration in visual
acuity of slow evolution. Bilateral orbital Erdheim-Chester disease was diagnosed.
Systemic evaluation revealed a retroperitoneal fibrosis. Treatment with interferonalpha followed, but bilateral compressive optic neuropathy with visual acuity
deterioration and visual field defects evolved. Bilateral orbital decompression was
performed.
19777245
Erdheim-Chester disease is a rare, non-Langerhans systemic histiocytosis
characterized by bilateral sclerosis of the metaphyseal regions of the long bones
and infiltration in other organs. The histopathologic hallmark is defined by a
mononuclear infiltrate of foamy histiocytes and rare pathognomonic Touton giant
cells with extensive fibrosis. This condition is exceptional in children. We report
here a case of Erdheim-Chester disease in a 10-year-old girl with retroperitoneal
infiltration and bone involvement, for whom the diagnosis was only established
after a 3-year course with multiple biopsies. It is also the first pediatric case
successfully treated with interferon-alpha suggesting that interferon-alpha can be a
safe and efficient first-line therapy for this disease in children.
19755920
Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis characterized
by progressive histiocytic proliferation with multiorgan involvement, typically of the
kidney, skin, brain, and lung, and less frequently, the heart and retro-orbital tissue.
Fluorine-18 fluorodeoxyglucose positron emission tomography (F-18 FDG PET)
plays an important role in the management of this disease. It has been reported
that FDG PET imaging allows accurate evaluation of the extent of the disease at
baseline, as well as assessment of response to any specific therapy. In this case, a
57-year-old Chinese man presented with functional decline and a urinary tract
infection. He had a prior history of xanthogranulomas of bilateral canthal masses.
On imaging, he was found to have left hydronephrosis, diffuse urothelial thickening,
increased density of the perinephric fat, mural thickening of the descending aorta
and soft tissue masses along the posterior wall of the right atrium extending into
the region of the interatrial septum and involving the right atrioventricular groove.
Histopathology revealed retroperitoneal fibrosis. An IV contrast-enhanced FDG
PET scan showed increased activity in a previously unidentified brain stem mass
and the shafts of bilateral femora. Varying levels of FDG uptake were seen in the
other lesions.
19692824
19679354
12/2/2015
2009
Jul 27
Joint Bone
Spine
Spumous
histiocytic
oligoarthritis
coexisting with
systemic
Langerhans' cell
histiocytosis: Case
report and literature
review
Aouba A,
Larousserie F,
Le Guern V,
Martin A,
Guillevin L
Medicine, Referal
Center for Histiocytosis,
Hôpital Cochin,
Assistance publiqueHôpitaux de Paris,
Université de Paris-5
René-Descartes, 27, rue
du Faubourg-SaintJacques, 75679 Paris
cedex 14, France;
Department of
Hematology, Hôpital
Necker-EnfantsMalades, Assistance
publique-Hôpitaux de
Paris, Université de
Paris-5 René-Descartes,
149, rue de Sèvres,
75473 Paris cedex 15,
France.
2009
Jul 20
Am J Surg
Pathol
Distinctive
Pulmonary
Histopathology
With Increased
IgG4-positive
Plasma Cells in
Patients With
Autoimmune
Pancreatitis: Report
of 6 and 12 Cases
With Similar
Histopathology
Shrestha B,
Sekiguchi H,
Colby TV,
Graziano P,
Aubry MC,
Smyrk TC,
Feldman AL,
Cornell LD, Ryu
JH, Chari ST,
Dueck AC, Yi ES
Department of
Laboratory Medicine and
Pathology
daggerPulmonary and
Critical Care Medicine
parallelDepartment of
Internal Medicine,
Division of
Gastroenterology and
Hepatology, Mayo
Clinic, Rochester, MN
double
daggerDepartment of
Pathology, Mayo Clinic
paragraph signSection
of Biostatistics, Mayo
Clinic, Scottsdale, AZ
section signUnit of
Pathology, C. Forlanini
Hospital, Roma, Italy
Pg 79 of 139
A 27-year-old man consulted with clinical and radiological features of chronic
erosive oligoarthritis of large joints (hips and knee), associated with diffuse lymphnode enlargement and diabetes insipidus. Lymph-node biopsy provided the
diagnosis of systemic Langerhans' cell histiocytosis, for which synovial involvement
remains a diagnostic challenge. Infectious diseases search and immunological
tests were all negative. Skeleton radiographs, hip and cerebral magnetic
resonance imaging showed, respectively, erosive arthritis of the hips and stigmates
of pituitary-stalk involvement. Hip-synovium biopsy exhibited the main histological
features of Erdheim-Chester disease, a non-Langerhans' cell histiocytosis. An
extensive literature review found that Langerhans' cell histiocytosis and nonLangerhans' cell histiocytosis (mainly Erdheim-Chester disease) coexistence is
rare and synovial involvements in them even more so, these latter presenting
mainly as large joint monoarthritis. The absence of typical clinical and radiographic
signs of Erdheim-Chester disease led to consideration of the rheumatologic
diagnosis of unclassified non-Langerhans' cell histiocytosis (or Erdheim-Chester
disease-type) oligoarthritis, associated with multiorgan Langerhans' cell
histiocytosis. The differential diagnosis of large joint erosive arthritis should then
include both entities, particularly when multiorgan manifestations are present. NonLangerhans' cell histiocytosis synovial involvements responded poorly to
vinblastine and corticosteroids, while Langerhans' cell histiocytosis involvements
responded completely but transiently. Both entities regressed under cladribine, with
only mild relapses of the non-Langerhans' cell histiocytosis involvements.
Autoimmune pancreatitis (AP) is one manifestation of a systemic, steroidresponsive disease with elevated serum IgG4 and characteristic histopathology,
including increased IgG4-positive (+) plasma cells in the tissue. The histopathology
of pulmonary IgG4 disease has not been well established. Six lung biopsies from
patients with documented AP were studied, along with 12 additional cases showing
similar pulmonary histopathology. For comparison, we examined Erdheim-Chester
disease (n=3), pulmonary Sjögren syndrome (n=19), inflammatory myofibroblastic
tumor (n=10), various inflammatory and interstitial lung disease (n=61), and nodal
or extranodal Rosai-Dorfman disease (RD) in adults (n=8). All cases were stained
for IgG4 and scored as 1, 2, and 3 as described in AP according to the following
criteria: 0, <5 (per high power field); 1, 5 to10; 2, 11 to 30; and 3, >30. Five lung
biopsies from AP patients showed IgG4 score of 3, and 1 had a score of 2.
Consistent findings in lung biopsies of AP patients included endothelialitis of
pulmonary vessels, active fibrosis, lymphangitic inflammatory infiltrates rich in
plasma cells and histiocytes with or without nodule formation, and fibrinous
pleuritis. Prominent lymphatic dilatation with histiocytes showing emperipolesis of
lymphocytes was also seen. All 12 additional cases showing these histologic
features also had the IgG4 score of 2 or 3. Among other conditions, an IgG4 score
of 2 or 3 was seen in 6 of 8 RD, 4 of 10 inflammatory myofibroblastic tumors, and 8
of 61 inflammatory and interstitial lung disease, but in none of the rest. In
conclusion, distinctive pulmonary histopathology was associated with increased
IgG4+ cells in both AP patients and those unknown for AP status. The significance
of increased IgG4+ cells in high proportion of RD cases merits further study as
does overlap of RD and IgG4 disease.
12/2/2015
19640768
19623032
2009
Jul 9
Rheumatol Int.
Erdheim-Chester
disease: a case
report with
pulmonary, kidney
involvement and
bone lesions.
Mounach A,
Nouijai A,
Achemlal L, El
Maghraoui A,
Bezza A.
Military Hospital
Mohamed V, Rabat,
Morocco, azizamounach
@yahoo.fr
2009
Jul 4
Rheumatol Int.
Erdheim-Chester
disease: a pitfall in
DXA
measurements.
Goerres GW,
Gengenbacher
MG, Uebelhart D
2009
Jun 30
Circulation
Haroche J,
Cluzel P,
Toledano D,
Montalescot G,
Touitou D,
Grenier PA,
Piette JC,
Amoura Z.
2008
Apr
Tunis Med
Images in
cardiovascular
medicine. Cardiac
involvement in
Erdheim-Chester
disease: magnetic
resonance and
computed
tomographic scan
imaging in a
monocentric series
of 37 patients.
Erdheim-Chester
disease
multivisceral form
with favourable
outcome
Institut für Medizinische
Radiologie,
Buergerspital
Solothurn/Spital
Grenchen soH,
Schoengruenstrasse 42,
4500, Solothurn,
Switzerland,
[email protected].
ktso.ch.
Medicine,Hôpital PitiéSalpêtrière, 47-83
Boulevard de l'Hôpital,
Paris, France.
[email protected]
.fr.
Pg 80 of 139
Khanfir A, Moalla
H, Boudawarra
T, Bahloul A,
Mnif J, Abid M,
Frikha M.
[email protected]
We report the case of a 42-year-old woman who was admitted in 2002 for
exploration of diffuse bone pain. She had medical history of pulmonary
tuberculosis. Her current symptoms had started 9 months earlier and consisted of
bone pain, affecting the legs. She had asthenia and weight loss. At admission,
physical examination showed bilateral and symmetrical long bone pain, especially
the knees and the ankles. Physical exam was normal elsewhere. Laboratory tests
showed inflammation, with an erythrocyte sedimentation rate of 90 mm/h and Creactive protein 8 mg/l. Protein electrophoresis, red and white blood cell count,
renal, and liver function tests were normal. Serum calcium, phosphorus, and
urinary calcium were normal. Radiographs showed multiple mixed bone lesions
with sclerotic and lytic areas of the femora, tibiae, humerus. Chest radiographs and
thoracic computed tomography (CT) scan showed pulmonary fibrosis. Biopsy of the
tibial area displayed foamy lipid-laden histiocytes, confirming the diagnosis of
Erdheim-Chester disease. Patient was treated with prednisolone plus
cyclophosphamide. Her clinical condition improved remarkably during 4 years, but
she developed acute renal failure leading to death.
None
19588143
None
19564564
None (article in French)
19476146
12/2/2015
19578853
2009
Apr
Am J Med Sci.
Erdheim-Chester
disease with lung
involvement
mimicking
pulmonary
lymphangitic
carcinomatosis
Yahng SA, Kang
HH, Kim SK, Lee
SH, Moon HS,
Lee BY, Kim HS,
Seo EJ.
Divisions of
pulmonology, St. Paul's
Hospital, The Catholic
University of Korea,
Seoul, Republic of
Korea.
2009
Apr
Chest.
Cardiac tumor and
renal involvement
in a nonsmoker
with centrilobular
pulmonary nodules.
Chew HC, Lee
CH, Cheah FK,
Lim ST, Loo CM.
2009
Mar
30
Pathol Res
Pract
Clonal status and
clinicopathological
feature of ErdheimChester disease
Gong L, He XL,
Li YH, Ren KX,
Zhang L, Liu XY,
Han XJ, Yao L,
Zhu SJ, Lan M,
Zhang W.
Department of
Respiratory and Critical
Care Medicine,
Singapore General
Hospital, Outram Road,
Singapore.
[email protected]
Department of
Pathology, Tangdu
Hospital, the Fourth
Military Medical
University, Shaanxi,
Xi'an 710038, China.
2009
Mar
19
Eur J Nucl Med
Mol Imaging
Symmetric giant
xanthogranulomas
in Erdheim-Chester
disease.
Taguchi T, Sano
S, Iwasaki Y,
Terada Y.
Pg 81 of 139
Erdheim-Chester disease (ECD) is a rare proliferative non-Langerhans cell
histiocytosis of multiple organs with unknown etiology. Around 20% of ECD cases
are reported to be associated with lung involvement and there are very few cases
manifested solely by nonspecific respiratory symptoms. A 50-year-old woman
presented with dry cough and dyspnea for 2 weeks. Chest computed tomography
(CT) revealed diffuse interlobular septal and fissural thickening with perilymphatic
and subpleural nodular opacities, suggesting pulmonary lymphangitic spread of
metastatic carcinoma. Bone scintigraphy and positron emission tomography/CT
showed multiple skeletal and lymph node involvement. The patient underwent
surgical lung biopsy and the pathologic feature was consistent with ECD. We
describe this case to emphasize that ECD should be included in the differential
diagnosis of cases suspected to have lymphangitic lung carcinomatosis. Moreover,
the findings of positron emission tomography/CT scan, which showed hot uptakes
in the affected areas, are also described.
19365181
19349408
Erdheim-Chester disease (ECD) is a rare non-Langerhans form of histiocytosis
characterized by xanthomatous tissue infiltration with foamy histiocytes. It is still
controversial whether these histiocytic proliferations represent monoclonal
neoplastic populations or are part of a polyclonal reactive process. This is a case
report of ECD in a 76-year-old Chinese woman. We investigated the
clinicopathological features and clonality of the histiocytes using laser
microdissection and a clonality assay based on X-chromosomal inactivation
mosaicism in female somatic tissues, as well as on the polymorphism of
phosphoglycerate kinase (PGK) and androgen receptor (AR). According to our
results, the lesion was composed of lipid-laden histiocytes and focal fibrous
tissues. The lipid-laden histiocytes were positive for CD68 and CD163, but
negative for CD1a and S-100. Electron-microscopic examination showed no
Birbeck granules, but the presence of lipid vacuoles. Moreover, the result of the
clonality assay demonstrated that these cells formed a polyclonal population. In
conclusion, ECD is a rare non-Langerhans' cell histiocytosis. Its nature may be a
non-neoplastic lesion; however, additional studies with larger sample sizes are
necessary to conclusively prove our hypothesis.
Kochi Medical School,
Kochi University,
Kohasu Oko-cho,
Nankoku, 783-8505,
Japan,
[email protected].
19339122
19296104
12/2/2015
2009
MarApr
Clin Imaging
Erdheim-Chester
disease: case
report with unique
postmortem
magnetic
resonance imaging,
high-resolution
radiography, and
pathologic
correlation.
8th European
Congress on
Epileptology,
Berlin, Germany,
21 – 25 September
2008 T220
Erdeim-Chester
Disease and
Epilepsy: Case
Report
de Abreu MR,
Castro MO,
Chung C, Trudell
D, Biswal S,
Wesselly M,
Resnick D.
Department of
Radiology, Hospital Mae
de Deus, Pedro Chaves
Barcelos 1127/401,
Porto Alegre RS 90450010,
Brazil. marcelorad@hot
mail.com
Erdheim-Chester disease is an infiltrative form of histiocytosis characterized by
replacement of normal tissues by lipid-laden histiocytes. The disease typically
infiltrates the medullary portion of the diaphysis and metaphysis of long bones,
producing a characteristic radiological pattern dominated by bone sclerosis. It
usually affects adults of 40 years of age with a clinical spectrum ranging from an
asymptomatic focal bone lesion to multisystemic disease. This case report
documents unique imaging and pathologic findings of Erdheim-Chester disease
using close postmortem pathologic-imaging correlation.
19237062
2009
Apr
Epilepsia,
Germany
Volume 50,
Issue
Supplement s4,
pages 1–261,
April 2009
E. Vitelli, R.
Spagliardi, V.
Badioni, L.
Cucurachi, and
M. Riva
Azienda Ospedaliera
Della Provincia Di Lodi,
Italy
Purpose: Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis
with systemic involvement (mainly bone, heart, lung, and kidney).
Neurological manifestations are present in 45% of reported patients
(Lachenal F et al J Neurol 2006;253:1267–1277) and seizures in 12%.
NMR shows different patterns of involvement: infiltrative, meningeal or
both. We hereby describe epileptic manifestations and treatment in a case
of ECD.
Conclusion: Seizures are not surprising in this case of ECD if the diffuse
cortical involvement is considered. LEV showed to be effective.
We also underline that in the complex treatment of ECD the support
of a neurologist is needed, particularly in paucisymptomatic cases, in
which the neurological involvement may be subtle or may be the heralding
feature.
19356158
2009
Feb
Mov Disord.
Erdheim-Chester
disease: a rare
clinical presentation
as multiple system
atrophy.
Chandran V, Pal
PK, Moin A,
Chickabasaviah
YT, Ravishankar
S, Panda S.
2009,
Jan 1
Intern Med.
Cardiac ErdheimChester.
2008
Dec
30.
Joint Bone
Spine.
Erdheim-Chester
disease with
predominant
mesenteric
localization: Lack of
efficacy of
interferon alpha.
Bassou D, El
Kharras A,
Amezyane T T,
En Nouali H,
Elbaaj M,
Benameur M,
Darbi A.
Perlat A, Decaux
O, Sébillot M,
Grosbois B,
Desfourneaux V,
Meadeb J.
Pramod Kumar Pal,
Department of
Neurology, National
Institute of Mental
Health and
Neurosciences,
Bangalore, Karnataka,
India
Radiology, Mohammed
V Hospital, Rebat,
Morocco.
[email protected]
m
Pg 82 of 139
Medicine, Service de
médecine Interne, CHU
Hôpital Sud, 16
boulevard de Bulgarie,
35200 Rennes, France.
19235927
-
19122364
-
19119043
12/2/2015
2009
Jan
Am J Med.
A multiplication
problem.
Furlanetto TW,
Fischer J,
Polanczyk CA,
Vasconcelos
MV.
Division of Internal
Medicine, Hospital de
Clínicas de Porto
Alegre, Universidade
Federal do Rio Grande
do Sul, Porto Alegre,
RS, Brazil.
[email protected]
-
19114169
2008
Nov
22
Med Clin (Barc)
Chemosis due to
orbital infiltration in
Erdheim- Chester
disease
Riancho JA,
Gómez-Román
J, Hernández JL.
-
19087836
2008
SepDec
Hell J Nucl Med.
Erdheim-Chester
disease: Symmetric
uptake in the
(99m)Tc-MDP bone
scan
Zanglis A,
Valsamaki P,
Fountos G.
Departamentos de
Medicina Interna y
Anatomía Patológica.
Marqués de Valdecilla.
Universidad de
Cantabria. Santander.
Cantabria. España
Pammakaristos General
Hospital, Nuclear
Medicine Department,
43 Iakovaton Street,
PC.111 44, Athens,
Greece.
[email protected]
19081860
2009
Jan
Brain Pathol.
60-year old woman
with extra-axial
frontal mass
Arakaki N,
Riudavets MA,
Cervio A,
Ferreira M,
Sevlever G.
Erdheim-Chester disease (E-C D) is a rare clinicopathologic entity with nearly
pathognomonic radiographic features. About half of the affected exhibit
extraskeletal manifestations, including involvement of the hypothalamus-pituitary
axis, lung, heart, retroperitoneum, skin, liver, kidneys, spleen and orbit. This
disease usually affects individuals in their fifties to their seventies and has a male
preponderance. The lesions of E-C D consist of lipid-storing CD68 (+) and CD1a (-)
non-Langerhans cell histiocytes, either localized to the bone or involving multiple
systems of the body as well. Skeletal involvement is characteristically bilateral and
symmetric, exhibiting an osteosclerotic pattern in the metaphysis and diaphysis of
the long bones, usually sparing epiphysis. We recently had a 68 years old male
patient with E-C D, with a mild and persistent knee pain, who was subjected to a 3phase technetium-99m methylene diphosphonate ((99m)Tc-MDP) bone-scan and
subsequently to gallium-67 citrate ((67)Ga-C) whole body scan. The characteristic
symmetric pattern of these scans raised the question of E-CD disease. The patient
showed an excellent symptomatic response to high-dose steroids. However, the
symptoms recurred after discontinuation of treatment.
60-year old woman with extra-axial frontal mass.Arakaki N, Riudavets MA, Cervio
A, Ferreira M, Sevlever G.
We describe a 60 year-old woman presenting with visual loss of her left eye. No
lymphadenopathies, fever, or weight loss were detected. Neuroimaging studies
revealed an extra-axial mass along the posterior aspect of the left optic nerve. The
mass was resected and showed xanthomatous histiocytes that were positive for
CD-68, occasionally positive for S-100, and negative for CD-1. The lesion was
diagnosed as Erdheim-Chester disease (ECD) affecting the CNS. The patient is
under systemic evaluation in order to discover other ECD lesions. Microscopic
findings and differential diagnoses are discussed.
Pg 83 of 139
Institute for Neurological
Research, FLENI.
Buenos Aires, Argentina
12/2/2015
19076782
2008
Nov
25
Rev Neurol
(Paris)
Pseudo-tumoral
and ischemic
encephalic
Erdheim-Chester
disease
Amezyane T,
Abouzahir A,
Bassou D,
Zoubeir Y,
Hammi S,
Mahassin F,
Ohayon V,
Archane MI.
interne B, hôpital
militaire d'instruction
Mohammed-V, 10000
Hay Ryad, Rabat, Maroc
2008
Sep
30
Circulation
Pericarditis
Heralding ErdheimChester disease.
Vaglio A, Corradi
D, Maestri R,
Callegari S,
Buzio C,
Salvarani C.
2008
Sep
Neurol Sci.
Late-onset sporadic
ataxia, pontine
lesion, and
retroperitoneal
fibrosis: a case of
Erdheim-Chester
disease.
Salsano E,
Savoiardo M,
Nappini S,
Maderna E,
Pollo B,
Chinaglia D,
Guerra U,
Finocchiaro G,
Pareyson D.
Medicine, Nephrology
and Health Science,
University of Parma,
Parma, Italy.
[email protected]
t
Division of Biochemistry
and Genetics, IRCCS
Foundation, "Carlo
Besta" Neurological
Institute, Via Celoria 11,
20133, Milan, Italy.
2008
Intern Med.
Erdheim-Chester
disease
2008
Aug
14
N Engl J Med.
Case records of the
Massachusetts
General Hospital.
Case 25-2008. A
43-year-old man
with fatigue and
lesions in the
pituitary and
cerebellum.
Vanichaniramol
N, Kingpetch K,
Buranasupkajorn
P,
Sunthornyothin
S, Snabboon T.
Mills JA,
Gonzalez RG,
Jaffe R.
Pg 84 of 139
INTRODUCTION: Erdheim-Chester disease (ECD) is a rare non-langerhans cell
histiocytosis of unknown etiology. It is a multi-systematic xanthogranulomatous
infiltration with almost constant bone involvement; the neurological manifestations
are not specific and occur in 15-20% of cases. METHODS: We report the case of a
59-year-old woman hospitalized for a frontal syndrome and right hemiparesis.
RESULTS: Imaging revealed a left caudate nucleus process with recent infarct.
Cardiovascular involvement and bilateral osteosclerosis of long bones strongly
suggested ECD, confirmed after biopsies of the pericardium and bone.
CONCLUSION: Pseudo-tumor encephalic ECD is very rare; the caudate nuclei is
an unusual localization; ischemic stroke has been exceptionally described.
Prognosis depends largely on the involvement of the central nervous and
cardiovascular systems.
19038410
18824648
A 60-year-old man with progressive gait ataxia and mild pyramidal signs showed at
MRI a pontine lesion with post-contrast enhancement in the left middle cerebellar
peduncle. Diagnosis of Erdheim-Chester disease (ECD), a rare non-Langerhans
cell histiocytosis, was suggested, further supported by a previously diagnosed
retroperitoneal fibrosis. X-ray films demonstrated characteristic bilateral and
symmetric osteosclerosis of the long bones of the lower limbs, which at
radionuclide studies exhibited a marked increase in technetium-99 uptake. A
cerebral 18FDG-PET showed a relevant pontine uptake of the tracer. Reevaluation of a past retroperitoneal biopsy showed an intense CD68+, CD1a-, and
S100-infiltrate of histiocytes with foamy cytoplasm, thus confirming the diagnosis.
ECD should be regarded as a rare cause of adult-onset sporadic ataxia, especially
when pontine lesions and extraneurological manifestations are present.
18810602
Saraburi Hospital,
Saraburi, Thailand.
18797126
Rheumatology, Allergy,
and Immunology
Division, Massachusetts
General Hospital,
Boston, USA.
18703477
12/2/2015
2008
JulAug
Radiographics
Neoplastic and
non-neoplastic
proliferative
disorders of the
perirenal space:
cross-sectional
imaging findings.
Surabhi VR,
Menias C,
Prasad SR,
Patel AH, Nagar
A, Dalrymple
NC.
Department of
Texas Health Science
Center at San Antonio,
7703 Floyd Curl Dr, San
Antonio, TX 78229, USA
2008
Jun
Thorax
Progressive
dyspnoea, pleural
effusions and lytic
bone lesions.
Nicholson AG,
Anderson E,
Saha S, Indrajith
M, Conry B,
Hughes J.
Department of
Histopathology, Royal
Brompton Hospital,
London, UK.
2008
May 2
J Thorac
Cardiovasc
Surg.
Unmasked
diabetes insipidus
after pericardial
drainage and
biopsy for
in association with
Erdheim-Chester
disease.
Augoustides JG,
Szeto WY.
2008
Jul 14
J Eur Acad
Dermatol
Venereol.
Parallel occurrence
of Erdheim-Chester
disease and
eosinophilic
granuloma in the
same patient.
2008
May
Rev Port Cardiol
A rare histiocytosis
with severe cardiac
involvement:
Erdheim-Chester
disease.
Kerzl R, Eyerich
K, Eberlein B,
Hein R,
Weichenmeier I,
Behrendt H,
Clemm C, Fend
F, Mempel S,
Waldt S, Ring J,
Mempel M.
Botelho A,
Antunes A,
Almeida JC,
Abecasis M, de
Gouveia RH,
Martins AP,
Marques AM
Pg 85 of 139
The perirenal space, located between the anterior and the posterior renal fasciae,
is shaped like an inverted cone with an apex that extends into the iliac fossa.
Perirenal tumors and pseudotumors primarily originate either from the kidney or as
part of a systemic disease process and have characteristic histopathologic features
and biologic behavior. The lesions may be classified on the basis of their
distribution and imaging features as solitary soft-tissue masses (renal cell
carcinoma, lymphangioma, hemangioma, and leiomyoma), rindlike soft-tissue
lesions (lymphoma, retroperitoneal fibrosis, and Erdheim-Chester disease), masses
containing macroscopic fat (angiomyolipoma, liposarcoma, myelolipoma, and
extramedullary hematopoiesis), and multifocal soft-tissue masses (metastases,
plasma cell tumors). Because of overlap in imaging findings among these diverse
perirenal lesions, a definitive diagnosis in most cases can be established only at
histopathologic analysis. However, an imaging pattern-based approach may
facilitate the diagnosis and optimal management of perirenal tumors and
pseudotumors.
18635626
18511636
18603080
Cardiothoracic Section,
Anesthesiology and
Critical Care, University
of Pennsylvania School
of Medicine,
Philadelphia, 191044283,
USA. yiandoc@hotmail.
com
Department of
Dermatology and
Allergy, Biederstein,
Technische Universität
München, Germany.
Serviço de Cardiologia,
Centro Hospitalar de
Coimbra, Coimbra,
Portugal. [email protected]
18637864
The term histiocytosis covers various disorders that lead to primary proliferation,
infiltration and accumulation of cells of the mononuclear-phagocytic system within
the affected tissues. Its pathophysiology is still unclear and the clinical course
variable, which explains the lack of specific treatment and the need for a high level
of suspicion to arrive at the diagnosis. The authors present the case of a patient
with a complex cardiological clinical history, recently referred for surgical treatment
of severe mitral insufficiency. Severe thickening of both atrial walls made it
impossible to proceed with the intervention. After a complex etiological evaluation,
a diagnosis of Erdheim-Chester disease was made. This is a rare, non-Langerhans
cell histiocytosis and, to our knowledge, this represents the first case reported in
Portugal. The authors also review the literature, particularly of the few cases with
cardiac involvement.
12/2/2015
18717219
2008
May
Respiration
Erdheim-Chester
Disease:
Pulmonary
Presentation in a
Case with
Advanced Systemic
Involvement.
Protopapadakis
C, Antoniou KM,
Nicholson AG,
Voloudaki A,
Tzanakis N,
Karantanas A,
Siafakas NM
Department of Thoracic
Crete, Heraklion,
Greece.
2008
May
Ann Nucl Med
Erdheim-Chester
disease: a rare
syndrome with a
characteristic bone
scintigraphy
pattern.
Spyridonidis TJ,
Giannakenas C,
Barla P,
Apostolopoulos
DJ
Medicine, Regional
University Hospital of
Patras, 26500, Rion,
Patras, Greece.
2008
May
Int J Urol
Retroperitoneal
infiltration as the
first sign of
Erdheim-Chester
disease.
Colin P,
Ballereau C,
Lambert M,
Lemaitre L,
Leroy X, Biserte
J
University Hospital, Lille,
France. pierre_colin@m
sn.com
2008
Apr
Ann Pathol
Uncommon
retroperitoneal and
bone lesions:
Erdheim-Chester
disease.
Mnif H, Makni S,
Ayedi L, Trigui
W, Bahloul A,
Mounir F,
SellamiBoudawara T
Laboratoire d'anatomie
et de cytologie
pathologiques, CHU
Habib-Bourguiba, 3029
Sfax, Tunisie.
Pg 86 of 139
Erdheim-Chester disease (ECD) is a non-Langerhans cell histiocytosis usually
affecting bone, that may progress to multi-organ involvement, with pulmonary
involvement as an indicator of poor prognosis. Herein, we present a 48-year-old
man with a 2-year history of progressive exertional dyspnoea, dry cough, malaise
and exophthalmos. High-resolution computed tomography showed peripheral
interstitial thickening with a lymphangitic distribution throughout both lungs,
suspected of representing lymphangitic spread of neoplasia. Transbronchial biopsy
specimen and bronchoalveolar lavage were non-diagnostic; thus, a surgical lung
biopsy was performed which showed features diagnostic of ECD. Subsequent
systematic investigations showed widespread bone involvement, cardiac
involvement manifested as left heart failure and renal/perirenal disease. Treatment
with pulsed corticosteroids and cyclophosphamide elicited neither clinical nor
functional response, with death at 6 months. This case highlights the aggressive
nature of ECD when there is pulmonary involvement, as well as problems in
diagnosis when there is pulmonary presentation and when systemic disease is
asymptomatic.
Erdheim-Chester disease is a rare noninherited, non-Langerhans' cell histiocytosis,
with multiorgan involvement. The skeleton is frequently involved in as many as 7080% of all cases. In nearly half of the cases, there is an involvement of other
organs such as the cardiovascular system, lung, kidneys, brain, and orbits. Extraskeletal involvement is correlated with increased morbidity and mortality. In recent
years, the disease is being described with increasing frequency although fewer
than 200 cases have been identified worldwide. Besides its rarity, the disease has
a characteristic almost pathognomonic bone scan appearance, which in some
cases facilitates diagnosis of the syndrome. Bone scans also contribute to the
qualitative assessment of skeletal involvement.
18460866
Case of elderly man with bladder cancer, in whom the first manifestation of
Erdheim-Chester disease was retroperitoneal infiltration detected during routine
follow-up. The disease was diagnosed on the basis of histology and
immunochemistry findings (presence of histiocytes) and of imaging findings (plain
radiography, computed tomography, magnetic resonance imaging, and bone
scintigraphy). The differential diagnosis with respect to other causes of
retroperitoneal infiltration is discussed.
We report a case of Erdheim-Chester disease, revealed by a polyuropolydipsic
syndrome. During the patient's work-up, osteocondensing lesions were found; the
biopsy of these lesions showed an infiltration by spumous cells of histiocytic
lineage, CD68+, CD1a-, associated with a lymphoid infiltrate within an extensive
fibrosis. Lung and retroperitoneal lesions were discovered. The surgical resection
of the involved ureter was required. Histological examination of the resected
specimen showed the same pattern of histiocytic infiltration. Our case report
underlines the variety of lesions associated with Erdheim-Chester disease and the
importance of a complete exploration.
18452465
12/2/2015
18535884
18675171
Erdheim-Chester
Disease: Report of
a Case with PCRbased Analysis of
the Expression of
Osteopontin and
Survivin in
Xanthogranulomas
Following
Glucocorticoid
Treatment.
Erdheim-chester
disease with
cutaneous features
in an Indian patient.
Taguchi T,
Iwasaki Y,
Asaba K,
Yoshida T,
Takao T, Ikeno
F, Nakajima H,
Kodama H,
Hashimoto K
Departments of
Endocrinology,
Metabolism, and
Nephrology, Kochi
Medical School, Kochi
University.
Case of ECD presenting diabetes insipidus and multiple xanthogranulomas
received glucocorticoid treatment over a year with improvement seen. Results
suggest that the expression level of osteopontin could be a marker of the disease
activity of ECD.
18270430
Garg T,
Chander R,
Gupta T,
Mendiratta V,
Jain M
From the Department of
Dermatology,
Venereology and
Leprosy Lady Hardinge
Medical College, New
Delhi, India.
18327007
Virchows Arch
Systemic ErdheimChester disease.
Department of
Pathology and
Mount Sinai Hospital,
Toronto, ON, Canada.
2008
Jan
Nat Clin Pract
Rheumatol
A case of ErdheimChester disease
initially mistaken for
Ormond's disease.
2007
Nov
Clin Nucl Med
FDG PET/CT for
Biopsy Guidance in
Erdheim-Chester
Disease.
Dickson BC,
Pethe V, Chung
CT, Howarth DJ,
Bilbao JM,
Fornasier VL,
Streutker CJ,
Sugar LM,
Bapat B
Loddenkemper
K, Hoyer B,
Loddenkemper
C, Hermann KG,
Rogalla P,
Förster G,
Buttgereit F,
Hiepe F,
Burmester GR
E Lin
Case of 60-year-old Indian woman presented with multiple asymptomatic, firm
swellings over the face that had been progressively increasing for the past 3.5
years. She complained of dry cough and dyspnea of 2 years' duration, which was
diagnosed as interstitial lung disease (ILD) based on chest radiography and highresolution computed tomography. Cutaneous examination revealed multiple (5)
firm, yellowish to skin-colored well-defined nodules with irregular margins ranging
in size from 1x 1 cm to 4x8 cm present over the left periorbital region and right
jawline, with overlying telangiectasias on the skin. 40 mg oral prednisolone daily
was started. Surgical debulking of her skin lesions was planned, but the patient
refused due to her worsening ILD.
Clinical histories, pathologic findings, and an analysis of clonality using the
HUMARA assay in two patients diagnosed with Erdheim-Chester disease. One
case has previously been documented in the literature. Histologically, both cases
demonstrated sheets of foamy xanthomatous histiocytes with widespread
infiltration of the viscera. We demonstrate the histiocytes to express CD163,
thereby further supporting a monocyte/macrophage basis. Moreover, in confirming
clonality, our observations lend additional evidence to the view that ErdheimChester disease represents a neoplastic process.
A 54-year-old man presented with fever, abdominal pain, anemia, elevated Creactive protein level and decreased renal function. Idiopathic retroperitoneal
fibrosis (Ormond's disease) had been diagnosed in the past, leading to surgical
ureterolysis. Further testing led to a diagnosis of Erdheim-Chester disease with
retroperitoneal fibrosis and bone sclerosis. Treatment with glucocorticoids failed.
The patient's symptoms improved significantly after initiation of interferon-alpha
therapy.
A 60-year-old man with a history of non-Hodgkin lymphoma underwent FDG
PET/CT which demonstrated a focal area of uptake in the left posterior perirenal
space, and uptake in both hips. The focal area of uptake in the left perirenal space
was biopsied, which demonstrated Erdheim-Chester disease. The PET/CT was
important in identifying an area for biopsy and demonstrating bone involvement.
18075421
2008
Feb
Endocr J
2008
Skinmed
2008
Jan
Pg 87 of 139
Department of
Rheumatology and
Charité University
Medicine, Berlin,
Germany.
konstanze.loddenkempe
[email protected]
From the Department of
Radiology, Virginia
Mason Medical Center,
Seattle, WA.
12/2/2015
18188596
18172449
2007
July
Presse Med
[Erdheim-Chester
disease.]
Haroche J,
Amoura Z,
Wechsler B,
Veyssier-Belot
C, Charlotte F,
Piette JC
interne, Hôpital PitiéSalpêtrière, Paris (75).
2007
Jun
Rev Med
Interne
[Usefulness of
combined positron
emission
tomography and
computed
tomography
imaging in
Erdheim-Chester
disease.]
Girszyn N,
Arnaud L, Villain
D, Kahn JE,
Piette AM, Bletry
O
interne, hôpital Foch, 40,
rue Worth, 92151
Suresnes cedex,
France.
2007
Oct
Australas Radiol
Erdheim-Chester
disease: a rare
cause of acute
renal failure.
O'Rourke R,
Wong DC,
Fleming S,
Walker D
Radiology Department,
The Wesley Hospital,
Brisbane, Queensland,
Australia.
2007
Oct
Arq Bras
Oftalmol
[Intraocular
involvement in
Erdheim-Chester
disease - first
report in the
literature: case
report.]
Biccas Neto L,
Zanetti F
Universidade Federal de
Minas Gerais, Belo
Horizonte, MG, Brasil.
2007
May
Skeletal Radiol
An unusual case of
Erdheim-Chester
disease with
features of
Langerhans cell
histiocytosis.
Furmanczyk PS,
Bruckner JD,
Gillespy T, Rubin
BP
Department of
Washington Medical
Center, 1959 NE Pacific,
Room BB220, P.O. Box
356100, Seattle, WA,
98195-6100, USA,
[email protected].
edu.
Pg 88 of 139
Erdheim-Chester disease classically thought to be rare, but diagnosed more
frequently nowadays (250 published cases). Two signs highly evocative of this
diagnosis are nearly constant tracer uptake by the long bones on (99)Tc bone
scintigraphy and a "hairy kidney" appearance on abdominal CT scan. A more
"elegant" diagnostic method is ultrasound-guided biopsy of the perirenal infiltration.
Cardiovascular involvement, which affects the aorta ("coated aorta") as well as all
the cardiac layers, leads to one third of the deaths related to this disease. Central
nervous system infiltration (especially cerebellar) is severe and difficult to treat. The
prognosis is extremely variable and is often worse when there is a cardiovascular
and/or central nervous system involvement. The treatment, decided upon on a
case-by-case basis at a specialist center, often begins with interferon alpha.
Use of combined fluorodeoxyglucose positron emission tomography and computed
tomography (18F-FDG PET-CT) in this disease is reported. EXEGESIS: Three
men, aged from 55 to 74 years with confirmed Erdheim-Chester disease were
included. 18F-FDG PET-CT allowed to detect visceral and vascular involvement of
the disease which were overlooked with CT-scan or magnetic resonance imaging:
left common carotid and ilio-femoral artery in one patient, coronary, femoral and
tibia in the second, aortic, common carotid, femoral and mandibula in the remaining
patient. Also, sequential 18F-FDG PET-CT was useful to appreciate treatment
efficiency (decrease hyperfixation) and decide treatment modification (interferon
alpha). CONCLUSION: 18F-FDG PET-CT combined imaging allows to assess the
extent of involvement in Erdheim-Chester disease. 18F-FDG PET-CT may be also
a useful tool in the management of Erdheim-Chester disease.
Report one case that presented with an encased aorta and renal arteries leading to
acute renal failure. The diagnosis of ECD was delayed until a biopsy of the
retroperitoneal infiltrate was performed. Further imaging with fluorine 18
deoxyglucose positron emission tomography, bone scintigraphy, plain films of the
long bones and CT of the chest, abdomen and pelvis were performed to assess the
extent of the patient's systemic disease involvement. To our knowledge, this is the
first reported case of ECD presenting with acute renal failure secondary to bilateral
occlusion of the renal arteries.
This is the first report of intraocular involvement in this disease. MPSG, a 46 y.o.
woman, presented with proptosis of the OD. She referred ulcerated lesions on the
hard palate, symmetrical and bilateral osteosclerosis of the fibulae and tibiae and a
nodule in the right breast (biopsy: xantomatous histiocytic infiltrate CD68+, S-100
and CD1a negative on immunohistochemistry compatible with ECD). MRI studies
demonstrated an extraconal tumor in the juxta-bulbar temporal portion of the right
orbit close to the lacrimal gland and hyperintense on T1. This pioneer report
depicts in vivo characteristics of histiocytic granulomas in ECD. Caution should be
taken with patients with ECD as potentially blinding intraocular complications may
arise.
We report on a case of ECD with some features suggestive of LCH. Radiographs
demonstrated a large lytic lesion in the left femur, with multiple lesions of sclerosis
involving both distal femurs and tibias. Both the lytic lesion and a sclerotic lesion
were biopsied and demonstrated distinctive histologic features characteristic of
ECD in the tibia and features of LCH in the femur. The clinical/radiologic and
pathologic features that distinguish ECD and LCH as distinct entities are reviewed,
and the underlying biological connection between them is discussed.
12/2/2015
17618076
17629593
17875157
18157316
17492445
2007
Jun
Coll Antropol
2007
Jun
Hong Kong Med
J
2007
June
2007
Jun
Pg 89 of 139
Erdheim-Chester
disease and
concomitant
tuberculosis
successfully treated
with chemotherapy
and long-term
steroids.
Orbital involvement
in Erdheim-Chester
disease.
Badzek S, MisirKrpan A, Krajina
Z, Radman I,
Stern-Padovan
R, Dotlić S
Department of
Oncology, University
Hospital Center
"Zagreb", Zagreb,
Croatia. [email protected]
According to published material and our experience, cytotoxic chemotherapy and
long-term steroids have therapeutic benefit. Although this approach can probably
be accepted as standard of care management, novel therapeutic modalities should
be explored, and pathogenesis and disorder classification should be cleared out as
well. The case of ECD affecting skeletal system and lungs and concomitant
laryngeal tuberculosis successfully treated with chemotherapy and long-term
steroid therapy is presented.
17847948
Lau WW, Chan
E, Chan CW
Department of
Ophthalmology, Queen
Mary Hospital, Pokfulam
Road, Hong Kong.
17548915
Archives of
Dermatology
Imatinib as a
Treatment Option
for Systemic NonLangerhans Cell
Histiocytoses
Jochen Utikal, MD,
Massachusetts General
Hospital Cancer Center
and Harvard Stem Cell
Institute, 185
Cambridge St, Boston,
MA 02114
([email protected]
u ).
Int J Clin Oncol
Radiotherapy for
Erdheim-Chester
disease.
Jochen Utikal,
MD; Selma
Ugurel, MD;
Hjalmar Kurzen,
MD; Philipp
Erben, MD;
Andreas Reiter,
MD; Andreas
Hochhaus, MD;
Thomas Nebe,
MD; Ralf
Hildenbrand,
MD; Uwe
Haberkorn, MD;
Sergij Goerdt,
MD; Dirk
Schadendorf,
MD
Matsui K,
Nagata Y,
Hiraoka M
A 45-year-old woman presenting with unilateral proptosis and periorbital
xanthelasma. Histopathological examination revealed a xanthogranulomatous
lesion expressing CD68, but negative for S100 protein, CD1a, CD3, or CD20.
Systemic involvement was evident on bone scanning, and involvement of the
thorax and abdominal aorta was seen on computed tomography. Despite treatment
with systemic steroids, immunosuppressants, chemotherapy and interferon,
progressive deterioration occurred. Our patient's clinical course was consistent with
reports in the literature. Unfortunately, our patient developed neutropenic fever and
died from septicaemic shock.
Herein, we report the case of a 41-year-old man with Rosai-Dorfman disease, a
form of systemic non-Langerhans cell histiocytoses, with histiocytic infiltrations in
the skin, bone marrow, liver, and spleen. Histiocytes were positive for the imatinib
target proteins platelet-derived growth factor receptor β and KIT. The disease
completely responded to treatment with 400 to 600 mg daily of imatinib for more
than 7 months.
A 42-year-old woman suffered from pain in both legs, and fever. She was
diagnosed with Erdheim-Chester disease (ECD), based upon bone biopsy. Initially,
she received steroid therapy, which led to temporary improvement. However, bone
pain in the right femur was so progressive that, as a trial course of radiation
therapy, she was given a total dose of 18 Gy in ten fractions to the right distal
femur. She showed a gradual response, and the local pain became controllable.
17566851
Department of
Radiology, Maizuru
Municipal Hospital,
Kyoto, Japan, [email protected]
a.hyogo.jp.
12/2/2015
2007
Apr
J Clin
Endocrinol
Metab
Bilateral Adrenal
Infiltration in
Erdheim-Chester
Disease. Report of
Seven Cases and
Literature Review.
Haroche J,
Amoura Z,
Touraine P,
Seilhean D,
Graef C, Birmelé
B, Wechsler B,
Cluzel P, Grenier
PA, Piette JC
2007
May
Brain Dev
Erdheim Chester
disease: cerebral
involvement in
childhood.
Kumandaş S,
Kurtsoy A,
Canöz O,
Patiroğlu T,
Yikilmaz A, Per
H
2007
May
Oral Surg Oral
Med Oral Pathol
Oral Radiol
Endod
Oral radiographic
and clinicopathologic
presentation of
Erdheim-Chester
disease: a case
report.
Dinkar AD,
Spadigam A,
Sahai S
2007
Apr
Acta Chir
Orthop
Traumatol Cech
[Warfarin-induced
hemorrhagic
pseudocyst in the
pelvic of a woman
with an inherited
disorder of blood
coagulation,
complicated by
pelvic bone
pseudoxanthoma
mimicking erdheimchester disease.]
Kinkor Z,
Koudela K,
Koudela K,
Havlícek F,
Koudelová J
Pg 90 of 139
From Service de
Médecine Interne,
Service d'Endocrinologie
et Médecine de la
Reproduction, Service
de Neuropathologie, and
Service de Radiologie
47-83 Bld de l'Hôpital,
75013 Paris, France;
Service de Néphrologie Immunologie Clinique,
Hôpital Bretonneau, 2
Boulevard Tonnelé,
37044 Tours, France.
Department of Pediatric
Neurology, Faculty of
Medicine, Erciyes
University, 38039
Kayseri,
Turkey. skumandas@ho
tmail.com
Oral Medicine,
Diagnosis, and
Radiology Department,
Goa Dental College and
Hospital (Government of
Goa), Bambolim, Goa,
India.
Bioptická laborator,
s.r.o., Plzen
22 patients with ECD undergoing systematic computed tomography (CT) scan to
search for signs of adrenal enlargement. Results: Seven of the 22 (31.8%) patients
with ECD displayed adrenal infiltration on CT scan. In one case, autopsy confirmed
that the adrenal enlargement was due to foamy histiocyte infiltration in the adrenal
glands. Adrenal involvement was reported in only 15 of the 240 ECD cases
published up to May 2006. This frequency is significantly lower than that in our
series (p = 0.0008; Fisher's exact test). Conclusions: Physicians should be aware
of ECD as a possible cause of morphological changes in adrenal size and
infiltration.
17405844
We reported the case of a 10-year-old boy who presented headache, paraparesis
and with diabetes inspidus for 6 years. As far as we know, the case presented here
is the first published report of intracranial involvement and unilateral bone sclerosis
with ECD in childhood.
17014978
A 69-year-old woman with unexplained fever and weakness was referred for
evaluation of a solitary mandibular swelling adjacent to a severely resorbed
edentulous mandibular ridge. The patient had coexisting craniofacial-skeletal
lesions and diabetes insipidus. Histological and immunohistochemical staining of
sections from mandibular lesions confirmed the rare diagnosis of Erdheim-Chester
disease. The absence of cardiac, pulmonary, renal, and major neurological
manifestations was suggestive of a diagnosis at an early stage of the disease.
Early diagnosis has been rare with less than 100 reported cases. A review of the
literature revealed only 2 cases that report detailed maxillomandibular radiographic
findings. A seemingly benign clinical presentation of a potentially grave disease
that presents with an osteolytic-sclerotic oral radiographic picture is reported.
A 50-year-old woman with developmental dysplasia of the hip underwent total hip
arhtroplasty, and subsequently developed recurrent venous thrombophilia of the
lower extremities. Hematological examination revealed an inherited disorder of
blood coagulation (homozygous mutation of the 5,10-methylenetetrahydrofolate
reductase gene) and therefore longterm Warfarin anticoagulation therapy was
started. A year later she was diagnosed with a large pelvic posthemorrhagic
pseudocyst (hematoma) located below the musculus iliacus and adhering to bone
in the region of posterior acetabulum. The condition was complicated by usuration
and focal osteolysis of the adjacent pelvic bone. Histological examination of the
hematoma showed characteristics of an unusual pseudoxanthoma mimicking
Erdheim-Chester disease. The differential diagnosis of histological findings is
discussed and recent relevant literature is reviewed. Key words: warfarin-induced
hematoma, posthemorrhagic pseudocyst, musculus iliacus, pelvis, anticoagulation
therapy, pseudoxanthoma of the bone, Erdheim-Chester disease.
17317237
12/2/2015
17493413
2007
Mar
J Neurooncol
Cerebral ErdheimChester disease:
first report of child
with slowly
progressive
cerebellar
syndrome.
Biliary
manifestation of
Erdheim-Chester
disease mimicking
Klatskin's
carcinoma.
Ozdemir MA,
Coşkun A, Torun
YA, Canoz O,
Kurtsoy A,
Patıroğlu T
Department of Pediatric
Hematology, Erciyes
University Medical
School, Talas C,
Kayseri, 38039, Turkey,
[email protected].
2007
Feb
Am J
Gastroenterol
Gundling F,
Nerlich A,
Heitland WU,
Schepp W
Second Department of
Medicine, Bogenhausen
Academic Teaching
Hospital, Technical
University of Munich,
Munich, Germany.
2007
Feb
Am J Surg
Pathol
Clonal cytogenetic
abnormalities in
Erdheim-Chester
disease.
Vencio EF,
Jenkins RB,
Schiller JL,
Huynh TV,
Wenger DD,
Inwards CY,
Oliveira AM
Division of Anatomic
Pathology, Mayo Clinic,
Rochester, MN 55905,
USA.
2007
Feb
Singapore Med
J
Erdheim-Chester
disease: a rare
cause of interstitial
lung disease.
Kong PM,
Pinheiro L, Kaw
G, Sittampalam
K, Teo CH
2007
Jan
Nihon Kokyuki
Gakkai Zasshi
[A case of ErdheimChester disease
effectively treated
by
cyclophosphamide
and prednisolone]
Yano S,
Kobayashi K,
Kato K, Tokuda
Y, Ikeda T,
Takeyama H
Department of
Tan Tock Seng Hospital,
11 Jalan Tan Tock
Seng, Singapore
308433.
[email protected]
m.sg
Department of
Pulmonary Medicine,
National Hospital
Organization Matsue
National Hospital.
Pg 91 of 139
Age at diagnosis ranges from 7 to 84 years (mean age, 53 years) with a female-tomale ratio of 3:1. Pediatric cases are extremely rare based on a search of the
English-language literature, and only three cases have been reported; they were in
a 7-, 10- and a 14-year-old. We described a 10-year-old boy with ECD who showed
six years clinical course of slowly progressive cerebellar symptoms. To our
knowledge, this may be the first case of a slowly progressive cerebellar syndrome
associated with ECD in a child.
We report a patient with elevated serum levels of liver enzymes due to intra- and
extrahepatic bile duct stenoses. The patient's past medical history was remarkable
for ECD, since 1 yr before he had undergone surgery for a pituitary lesion in our
neurosurgical department revealing the typical histological and
immunohistochemical criteria of ECD. Because no biliary manifestation of ECD had
been described so far in the literature, surgery of suspected bile duct carcinoma
was performed unraveling an unresectable tumor of the hilar region. Surprisingly,
histologic examination of intraoperative biopsy specimens failed to demonstrate
malignancy but rather revealed another xanthogranulomatous lesion embedded in
extended periductal fibrosis as is typically described in extrahepatic parenchymal
organ manifestation of ECD. Other possible reasons for cholestatic liver disease
were excluded. Secondary cholestasis was overcome by endoscopic dilatation and
biliary stenting with stents being exchanged every 3 months. During follow-up for 7
yr we have observed only a slight increase of the hilar stenosis so far. This is the
first report describing biliary manifestation of ECD. Even though ECD is a rare
cause of cholestasis, it should be considered in patients with this disorder in the
setting of multiorgan manifestation.
We report for the first time the cytogenetic findings of a case of ECD diagnosed at
Mayo Clinic Rochester. The tumor occurred in the right tibia of a 35-year-old man
and showed the balanced chromosomal translocation t(12;15;20)(q11;q24;p13.3),
among other numeric chromosomal abnormalities. The lesion was positive for
CD68 and negative for CD1a and S100. These findings support the idea that some
cases of ECD are clonal neoplastic disorders of putative histiocytic differentiation.
However, additional studies are warranted to confirm whether the chromosomal
abnormalities found in this case represent recurrent cytogenetic events.
ECD should be considered in the differential diagnosis of interstitial lung disease.
We describe a 39-year-old woman who presented with dry cough, malaise and
progressive dyspnoea. She was diagnosed to have late stage interstitial lung
disease due to Erdheim-Chester disease.
17361336
We report a 55-year-old man with ECD who complained of severe dyspnea despite
home oxygen therapy with noninvasive positive pressure ventilation. Continuous
PGI2 administration was not very effective, but administration of cyclophosphamide
and prednisolone induced rapid improvement of respiratory failure and the effect
for six months on arterial blood gas analysis and stability of the disease state
persisted.
17313026
12/2/2015
17037989
17255779
17304381
2007
Jan
Nucl Med
Commun
Radiopharmaceutic
al diagnosis of
Erdheim-Chester's
disease.
Palotás A,
Bogáts G, Lázár
M, Papós M,
Matin K, Pávics
L
2007
Jan
Rheumatol Int
Srikulmontree T,
Massey HD,
Roberts WN
2006
Dec
Arthritis Rheum
2006
Dec
J Cardiovasc
Pharmacol Ther
Treatment of
skeletal ErdheimChester disease
with zoledronic
acid: case report
and proposed
mechanisms of
action.
Immunohistochemi
cal evidence of a
cytokine and
chemokine network
in three patients
with ErdheimChester disease:
implications for
pathogenesis.
An isotopediagnostic
approach to
Erdheim-Chester's
disease of the
heart.
2006
Oct
Arthritis Rheum
Variability in the
efficacy of
interferon-alpha in
Erdheim-Chester
disease by patient
and site of
involvement:
results in eight
patients.
Haroche J,
Amoura Z, Trad
SG, Wechsler B,
Cluzel P, Grenier
PA, Piette JC
Pg 92 of 139
Division of Cardiac
Center for Cardiology
Department of
Psychiatry, AsklepiosMed Bt., H-6722
Szeged, Kossuth Lajos
sgt. 23, Hungary.
[email protected]
Rheumatology Section,
Hunter Holmes McGuire
Broad Rock Blvd, 111M,
Richmond, VA, 23249,
USA.
We have previously suggested diagnostic methods using radioisotopes to evaluate
this disseminating disease, but they are neither specific nor selective in this regard.
The present hypothesis-driven paper reviewing our case proposes novel
approaches involving nuclear medicine and utilizing radiopharmaceuticals to
identify this potentially fatal multi-system disease.
17159551
Here we report a case of biopsy-proven skeletal ECD, who received treatment with
zoledronic acid, an aminobisphosphonate, with remarkable clinical improvement.
We also discuss possible mechanisms of action of bisphosphonates in this
disorder, especially their roles in inhibition of inflammatory cytokines and
macrophage infiltration.
16932956
Stoppacciaro A,
Ferrarini M,
Salmaggi C,
Colarossi C,
Praderio L,
Tresoldi M,
Beretta AA,
Sabbadini MG
University of Rome La
Sapienza, Rome, Italy.
The purpose of this study was to assess cell proliferation and expression of
cytokines, chemokines, and chemokine receptors that may potentially be important
in histiocyte accumulation in ECD lesions. Biopsies were performed on 3 patients
with ECD. Our data indicate that, similar to LCH, ECD lesions are characterized by
a complex cytokine and chemokine network, which may orchestrate histiocyte
activation and accumulation through an autocrine loop and contribute to the
pathogenesis of the disease.
17133532
Palotás A,
Bogáts G, Lázár
M, Papós M,
Matin K, Pávics
L
Division of Cardiac
Surgery, Center for
Cardiology, Albert
Szent-Györgyi Medical
and Pharmaceutical
Center, Faculty of
Szeged, Szeged,
Hungary.
[email protected]
Paris, France.
[email protected]
We present several specific isotope-diagnostic techniques of a case to support the
identification of this rare multisystem infiltrative disease.
17220475
We treated 8 patients with multisystemic ECD with subcutaneous interferon-alpha
(IFNalpha) at a dosage of 3-9 x 10(6) units 3 times weekly, for a median duration of
23 months (range 1-46 months). RESULTS: Treatment was generally well
tolerated, and side effects remained limited to fever following injections. Treatment
was discontinued in 1 patient, because of severe depression. During treatment,
some manifestations of ECD disappeared (i.e., xanthelasma, exophthalmos,
papilledema, and intracranial hypertension). The efficacy of IFNalpha on
cardiovascular ECD was variable, however. Treatment resulted in partial
regression of "coated aorta" in some cases and clear failure in others; 2 patients
died. The level of C-reactive protein diminished sharply in 5 patients.
CONCLUSION: IFNalpha might be a valuable first-line therapy for prolonged
treatment of ECD. However, the efficacy of IFNalpha varies among patients and
according to the sites of disease involvement, and symptoms may fail to respond to
treatment, especially in patients with severe multisystemic forms of ECD with
central nervous system and cardiovascular involvement.
17009306
12/2/2015
2006
Oct
J Neurol
Neurological
manifestations and
neuroradiological
presentation of
Erdheim-Chester
disease: report of 6
cases and
systematic review
of the literature.
Lachenal F,
Cotton F,
Desmurs-Clavel
H, Haroche J,
Taillia H, Magy
N, Hamidou M,
Salvatierra J,
Piette JC, VitalDurand D,
Rousset H
Medicine, Centre
Hospitalier Lyon Sud,
69495, Pierre-Bénite,
Cedex, France.
[email protected]
2006
Neurol
Neurochir Pol
Neurologic
presentation of
Erdheim-Chester
disease.
Brodkin CL,
Wszolek ZK
Department of
Neurology, Mayo Clinic,
4500 San Pablo Road,
Jacksonville, FL 32224,
USA.
2006
Radiologia
[Radiologic
diagnosis of
Erdheim-Chester
disease. A case
report]
Gil Marculeta R,
Domínguez
Echávarri PD,
Cano Rafart D,
Larrache Latasa
J
Servicio de Radiología,
Clínica Universitaria de
Navarra, Pamplona,
España. [email protected]
2006
Sep
Radiother Oncol
Miller RC, Villà
S, Kamer S,
Pasquier D,
Poortmans P,
Micke O, Call TG
Department of Radiation
Oncology, Mayo Clinic,
USA.
2006
Jul
Med Klin
(Munich)
Palliative treatment
of Erdheim-Chester
disease with
radiotherapy: a
Rare Cancer
Network study.
[Erdheim-chester
disease: a rare
cause of interstitial
lung disease]
Krüger S, Krop
C, Wibmer T,
Pauls S,
Mottaghy FM,
Schumann C,
Hombach V
Innere Medizin II,
Ulm, Ulm.
[email protected]
Pg 93 of 139
We report 6 cases of ECD with neurological involvement and neuroradiological
abnormalities on brain MRI. A literature review revealed 60 other cases of ECD
with neurological involvement. We therefore analyzed 66 ECD patients with
neurological involvement. Cerebellar and pyramidal syndromes were the most
frequent clinical manifestations (41% and 45% of cases), but seizures, headaches,
neuropsychiatric or cognitive troubles, sensory disturbances, cranial nerve
paralysis or asymptomatic lesions were also reported. Neurological manifestations
were always associated with other organ involvement, especially of bones (at least
86%) and diabetes insipidus (47%). Neurological involvement was responsible for
severe functional handicaps in almost all patients and was responsible for the
death of 6 of the 66 patients (9%). Neuroradiological findings could be separated
into three patterns: the infiltrative pattern (44%), with widespread lesions, nodules
or intracerebral masses, the meningeal pattern (37%), with either thickening of the
dura mater or meningioma-like tumors, and the composite pattern (19%), with both
infiltrative and meningeal lesions.
We present 2 cases and reviewed 108 patients reported in the literature who had
neurologic manifestations of Erdheim-Chester disease. After eye involvement or
diabetes insipidus, cerebellar symptoms were most frequently encountered,
followed by tumor, headaches, cord compression, mental status change, seizures,
and change in libido. A wide range of neurological symptoms can be seen in ECD.
Therefore we hope the review brings more awareness about this disorder.
Erdheim-Chester disease is a rare disorder, belonging to the group of
histiocytoses, in which diffuse infiltration of histiocytes affects various organs and
systems. Bone involvement in Erdheim-Chester disease manifests as generalized
sclerosis of the bone marrow and cortex of the long bones, and this peculiar
radiologic characteristic differentiates it from other histiocytoses. Diagnostic
suspicion of the disease derives from the pulmonary and bone radiologic findings
as well as from the clinical findings. Histological study reveals histiocyte infiltration
affecting the soft tissues, musculoskeletal system, and central nervous system. The
definitive diagnosis is reached by immunohistochemistry. Like other histiocytoses,
such as Langerhans cell histiocytosis, immunohistochemical techniques reveal
lipid-laden histiocytes; however, unlike the other types, Erdheim-Chester
histiocytes stain negatively for S 100 protein and do not contain Birbeck granules.
A retrospective study of the use of palliative external beam radiotherapy (EBRT) in
nine patients with Erdheim-Chester disease was conducted through the Rare
Cancer Network. Patients received EBRT for bone pain, brain infiltration, or retroorbital involvement. EBRT typically provided short-term palliation, with later
recurrence of symptoms in most cases.
17063320
A 58-year-old man presented with fatigue, diffuse pain of the lower extremities,
dyspnea, and a dry cough. CT demonstrated pulmonary fibrosis, periaortic fibrosis
of the thoracic aorta, and retroperitoneal fibrosis. The diagnosis of ErdheimChester disease was confirmed by minimally invasive lung biopsy. Steroid therapy
was not tolerated. Following a stable interval of 18 months there was a disease
progression, which could be stabilized after the initiation of cyclophosphamide
therapy. CONCLUSION: In patients with extensive pulmonary fibrosis and
coincidence of other organ manifestations such as periaortic or retroperitoneal
fibrosis and particularly in case of symmetrical osteosclerotic bone lesions,
Erdheim-Chester disease should be considered. Immunosuppressive therapy can
lead to a stabilization or even improvement of the disease.
16850173
12/2/2015
17103353
17168244
16959346
2006
Apr
Laryngoscope
2006
Feb
Radiology
2006
Heart Surg
Forum
Erdheim-Chester's
disease of the
heart: a diagnostic
conundrum and
collision with the
same mass in the
orbit.
2006
Ophthal Plast
Reconstr Surg
Association
between ErdheimChester disease,
Hashimoto
thyroiditis, and
familial
thrombocytopenia.
2005
Dec
Recenti Prog
Med
[Erdheim-Chester
disease: normal
skeletal
radiography in a
patient with
extensive bone
involvement]
Pg 94 of 139
Subglottic stenosis
in Erdheim-Chester
disease: a
previously
unrecognized site
of involvement.
Bone involvement
in Erdheim-Chester
disease: imaging
findings including
periostitis and
partial epiphyseal
involvement.
Freed GL,
Sinacori JT
Dion E, Graef C,
Miquel A,
Haroche J,
Wechsler B,
Amoura Z,
Zeitoun D,
Grenier PA,
Piette JC,
Laredo JD
Bogáts G, Piros
G, Tiszlavicz L,
Iványi B, Sasi V,
Csepregil L,
Simon J, Babik
B, Csillik A,
Kardos L, Palkó
A, Matin K,
Hanzély Z,
Korányi K, Nyáry
I, Végh M,
Kolozsvári L,
Kahán Z,
Bajcsay A, Tóth
A, Balázs G,
Simor T, Pávics
L, Palotás A
Cruz AA, de
Alencar VM,
Falcão MF, Elias
J, Chahud F
Gabrielli GB,
Stanzial AM,
Moretti L, Volpe
A, Corrocher R
Department of
Otolaryngology-Head
and Neck Surgery,
Eastern Virginia Medical
School, Norfolk, Virginia
23507, USA.
Department of
Radiology, La Pitié
Salpêtrière Hospital, 4783 Boulevard de
l'Hôpital, 75651 Paris
Cedex 13, France.
[email protected]
We describe a case of laryngeal stenosis secondary to an etiology not previously
described. A patient with Erdheim-Chester disease presented with airway
obstruction and was found to have subglottic stenosis. Biopsy results confirmed
Erdheim-Chester nodules as the cause of the obstruction. This case illustrates the
need for biopsy to rule out malignancy and less common etiologies of subglottic
stenosis.
PURPOSE: To retrospectively review the bone findings at radiography,
scintigraphy, computed tomography (CT), and magnetic resonance (MR) imaging
in 11 patients with immunohistochemical and histologic proof of Erdheim-Chester
disease. CONCLUSION: This series provides a detailed description of bone
involvement in Erdheim-Chester disease. Periostitis and partial epiphyseal
involvement of the long bones are also features of this disease. (c) RSNA, 2005.
16585877
Division of Cardiac
Surgery, Center for
Cardiology, Faculty of
Szeged, Szeged,
Hungary.
Erdheim-Chester's disease is a rare multisystem xanthogranulomatosis, afflicting
the skeletal system with the occasional involvement of soft tissues. We delineate
an unusual case of a cardiac variant of Erdheim-Chester's disease presenting with
pericardial effusion and as a collision with a synchronous orbital manifestation. We
describe our diagnostic pathway and propose a novel treatment option involving
nonsteroidal anti-inflammatory drugs. The role of cyclo-oxygenase in the disease
process and inhibition thereof by NSAIDs is hypothesized and discussed.
16403713
Department of
Ophthalmology,
Otorhinolaryngology,
and Head and Neck
Surgery, School of
Medicine of Ribeirão
Preto, University of São
Paulo, Brazil.
[email protected]
Dipartimento di Medicina
Clinica e Sperimentale,
Università di Verona.
A 28-year-old woman presented with progressive proptosis of the left eye. She had
a history of familial thrombocytopenia and Hashimoto thyroiditis. A review of the
literature indicated that the association between non-Langerhans histocytoses and
immunologic dysfunctions is not uncommon. We hypothesize that Erdheim-Chester
disease may be linked to an abnormal interaction between T-lymphocytes and
macrophages similarly to the macrophage activation syndromes.
16418672
The patient we describe suffered of serious clinical symptoms in the lower limbs,
but the direct radiography of the legs did not show any abnormality; this finding
seems very remarkable and, to our knowledge, has not been reported previously in
the literature. Therefore we discuss the role of the imaging procedures in the
diagnosis of Erdheim-Chester disease. Differently from other authors, we did not
obtain any clinical improvement in our patient by steroid treatment alone, that is
generally considered the first therapeutic option for Erdheim-Chester disease with
only skeletal involvement.
16496745
12/2/2015
16371583
2005
Nov
Blood
Successful
treatment of
Erdheim-Chester
disease, a nonLangerhans-cell
histiocytosis, with
interferon-alpha.
Braiteh F,
Boxrud C,
Esmaeli B,
Kurzrock R
Phase I Program,
Division of Cancer
Medicine and University
of Texas Graduate
School of Biomedical
Sciences at Houston,
Texas, USA.
2005
Breast J
Erdheim-Chester
disease of the
breast: a case
report and review
of the literature.
Barnes PJ, Foyle
A, Haché KA,
Langley RG,
Burrell S,
Juskevicius R
2005
Aug.
J Oral Pathol
Med
Erdheim-Chester
disease in a child
presenting with
multiple jaw
lesions.
2005
Jun
Respirology
Pulmonary
involvement in
Erdheim-Chester
disease.
Nagatsuka H,
Han PP, Taguchi
K, Tsujigiwa H,
Gunduz M,
Fukunaga J,
Sugahara T,
Asaumi J, Nagai
N
Chung JH, Park
MS, Shin DH,
Choe KO, Kim
SK, Chang J,
Kim SK, Kim YS
Division of Anatomical
Pathology, Queen
Elizabeth II Health
Sciences Center,
Halifax, Nova Scotia,
Canada.
[email protected]
health.ca
Department of Oral
Pathology and Medicine,
Graduate School of
Medicine and Dentistry,
Okayama University,
Okayama, Japan.
2005
May
Arch Phys Med
Rehabil
Erdheim-Chester
disease: the effect
of bisphosphonate
treatment--a case
report.
Pg 95 of 139
Eyigör S, Kirazli
Y, Memis A,
Başdemir G
Medicine, Kwandong
Medicine, Myungji
Hospital, Koyang,
Korea.
Department of Physical
Therapy and
Rehabilitation, Ege
University Medical
Faculty, Izmir, Turkey.
Because interferon-alpha promotes the terminal differentiation of histiocytes and
dendritic cells, we hypothesized that this molecule would be a useful therapy for
Erdheim-Chester disease. We therefore treated 3 patients with advanced disease
with interferon-alpha at a starting dose of 3 to 6 x 10(6) units, which was later
reduced, during maintenance, to 1 x 10(6) units subcutaneous 3 times per week.
Marked improvement was noted in all patients, with substantial retro-orbital disease
regression within 1 month. Improvement in bone lesions, pain, diabetes insipidus,
and other manifestations was gradual over many months. Responses were durable
(3+ to 4.5+ years). Our observations suggest that this well-tolerated therapy has a
significant effect on the course and outcome of Erdheim-Chester disease.
We report the case of a 49-year-old woman who presented with palpable breast
nodules, followed by progressive soft tissue and subcutaneous disease, and
involvement of the long bones, dysarthria, and dysphagia. The histopathologic
features and skeletal radiography findings are consistent with ECD. This case
represents an unusual presentation, which led to delayed diagnosis, as ECD of the
breast has been rarely reported. ECD should be considered in the differential
diagnosis of histiocytoid breast lesions, including fat necrosis and histiocytoid
invasive mammary carcinoma.
We report a case of 13-year-old female patient who first presented with multiple
osteolytic lesions of the jaws followed by bilateral symmetrical bone lesions
affecting the lower extremities, as well as brain and abdominal involvement.
Histological findings of the jaw lesions showed lipid-storing CD68 (+), CD1a (-)
histiocytes with Touton type giant cells. CONCLUSION: To the best of our
knowledge, this is the first case of Erdheim-Chester disease with jaw bone lesions
occurring as initial presenting symptom.
16020507
Case of a 53-year-old woman with extensive and progressive pulmonary disease.
Computed tomography scans revealed diffuse infiltrative lung disease.
Thoracoscopic lung biopsy and a biopsy of the right femur lesion were performed.
The histopathology revealed that she had non-Langerhans' cell histiocytosis;
Erdheim-Chester disease. The characteristic lesions of Erdheim-Chester disease,
including involvement of the orbit, pericardium, periaorta, and bone were detected.
This helped to further confirm that the patient had Erdheim-Chester disease with
associated pulmonary involvement. As Erdheim-Chester disease is a rare nonLangerhans' cell histiocytosis that may be misdiagnosed as interstitial lung disease
or other pulmonary disorders, this diagnosis should be considered in the differential
diagnosis of such lung lesions.
We present a patient in her early sixties with bilateral mild knee and leg pain. The
patient showed a typical bilateral symmetric medullary sclerosis at the
diametaphyseal portions of long bones of the lower extremity. The diagnosis was
confirmed by a bone biopsy, and bisphosphonate (alendronate, 70 mg/wk) was
given to the patient. After 9 months of treatment, biochemical markers of bone
turnover, which were high at baseline, decreased to normal ranges. However, the
radiographs showed that bone lesions had changed to lytic lesions. We propose
use of bisphosphonates, such as alendronate, to decrease the biochemical
markers of bone turnover. But we suggest that it is premature to conclude that
bisphosphonates have any effect on lytic lesions and the progression of the
disease as shown by changes in radiographs. Further studies with long-term
follow-up and ultrastructural evaluation are needed.
15955155
12/2/2015
16297093
16011611
15895357
2005
May
Skeletal Radiol
Erdheim-Chester
disease in a child
with MR imaging
showing regression
of marrow changes.
Joo CU, Go YS,
Kim IH, Kim CS,
Lee SY
Department of
Pediatrics, Chonbuk
National University
Medical School, 561-712
Jeonbuk, Korea.
2005
Apr
Mayo Clin Proc
Castle EP,
Humphreys MR,
Andrews PE
Mayo Clinic College of
Medicine, Scottsdale,
Ariz 85259, USA.
2005
Apr
Urology
Laparoscopic
biopsy and
ureterolysis in
Erdheim-Chester
disease.
Compression of
kidneys in ErdheimChester disease of
retroperitoneum:
Open surgical
approach.
Wimpissinger
TF,
Schernthaner G,
Feichtinger H,
Stackl W
2005
Feb
Arch Pathol Lab
Med
Fulminant
multisystem nonlangerhans cell
histiocytic
proliferation with
hemophagocytosis:
a variant form of
Erdheim-Chester
disease.
Rao RN, Chang
CC, Uysal N,
Presberg K,
Shidham VB,
Tomashefski JF
Department of Urology
and Ludwig Boltzmann
Institute for
Extracorporeal
Lithotripsy and
Endourology,
Rudolfstiftung Hospital,
Vienna, Austria.
florian.wimpissinger@g
mx.at
Department of
Pathology, Medical
Milwaukee, USA.
Pg 96 of 139
We report a case of Erdheim-Chester disease in a 10-year-old girl evaluated with
MR imaging. Radiographs revealed typical bilateral, symmetric osteosclerosis of
the metaphyseal regions of long bones of the upper and lower extremities.
RESULTS: A histologic examination demonstrated foamy histiocytes in bone
marrow smears. Bilateral symmetric low signal intensities of both proximal tibiae
and distal femurs were demonstrated on T1-weighted MR images. After oral steroid
therapy for 8 months, follow-up MR imaging showed remarkable restoration of
normal high signal intensity in both the tibial and femoral metaphyses.
CONCLUSION: To our knowledge, this may be the first case of Erdheim-Chester
disease that showed normal restoration of the abnormal signal intensities in the
metaphyses of long bones after steroid therapy.
We describe a patient who underwent laparoscopic bilateral ureterolysis and
laparoscopic biopsy for presumed retroperitoneal fibrosis confirmed previously by
percutaneous needle biopsy findings. The final pathologic diagnosis based on
laparoscopic biopsy results was ECD. As evidenced by this case, ureterolysis
offers little benefit to patients with ECD.
We report the first case of surgical treatment of severe compression of renal
parenchyma by retroperitoneal masses in a 61-year-old male patient with
progressing renal failure. After 3 years of follow-up, we have concluded that the
open surgical approach is an option in the management of renal complications in
15480644
Hemophagocytosis (HP), a feature seen in malignant histiocytosis and infectionand lymphoma-associated disorders, has not been previously emphasized in
Erdheim-Chester disease (ECD). Generally, ECD is recognized as a rare,
systemic, non-Langerhans cell histiocytosis with a variable clinical course. Herein,
we describe a unique case of multisystem non-Langerhans cell histiocytic
proliferation with a fulminant clinical course (death occurred within 3 months of
presentation) that showed prominent HP and extensive involvement of multiple
organs, including the lungs, resulting in respiratory failure. Hemophagocytosis led
to severe anemia that required transfusion and thrombocytopenia. Antemortem
lung and bone marrow biopsy specimens revealed involvement by a histiocytic
infiltrate with features highly suggestive of ECD and HP. Furthermore, the autopsy
documented the presence of HP and the histiocytic infiltrate in multiple other
organs. This case is best categorized as a variant form of ECD. Recognizing this
variant has the following important implications: (1) HP may be a marker for
fulminant clinical course in ECD, (2) the presence of HP does not exclude a
diagnosis of ECD, and (3) ECD should be considered in the differential diagnosis of
HP.
15679446
12/2/2015
15819294
15833540
2005
Jan
Dtsch Med
Wochenschr
[Erdheim-Chester
disease]
Koziolek MJ,
Kunze E, Müller
A, Thiem V,
Scheel AK,
Müller D, Müller
GA, Strutz F
Abteilung Nephrologie
und Rheumatologie,
Georg-AugustUniversität Göttingen.
[email protected]
2005
Int Urol Nephrol
Renal calculi in a
patient with
Erdheim-Chester
disease.
Dundee P,
Bouchier-Hayes
D, Iles L,
Costello A
2004
Dec
An Med Interna
2004
Dec
Arch Pathol Lab
Med
[Erdheim-Chester
disease and
Langerhans
histiocytosis. A
fortuitous
association?]
Pulmonary and
ophthalmic
involvement with
Erdheim-Chester
disease: a case
report and review
of the literature.
Simiele Narvarte
A, Novoa
Sanjurjo F,
Gómez
Rodríguez N,
Antón Badiola I
Allen TC,
Chevez-Barrios
P, Shetlar DJ,
Cagle PT
Royal Melbourne
Hospital, Parkville,
Melbourne, Australia.
[email protected]
Servicio de
Hematología, Centro
Médico POVISA, Vigo,
Pontevedra.
2004
Dec
Clin Radiol
Erdheim-Chester
disease versus
multifocal fibrosis
and Ormond's
disease: a
diagnostic
dilemma.
Bangard C, Lotz
J, Rosenthal H,
Galanski M
Pg 97 of 139
Department of
Texas Health Center at
Tyler, Houston, Tex
75708-3154, USA.
[email protected]
u
Department of
Cologne, Cologne,
Germany.
[email protected]
A 55-year-old female was admitted complaining of musculoskeletal pain and
weakness of both lower extremities for a number of years. Due to a hypothalamic
mass of unknown aetiology a diabetes insipidus, a gonadotrophic, somatotrophic
and a partially corticotrophic insufficiency had developed. Investigations indicated
Erdheim-Chester disease (ECD). Under treatment with glucocorticosteroids
musculoskeletal complaints improved, but re-appeared following dose reduction. A
therapeutic trial using methotrexat did not affect the complaints. The ErdheimChester syndrome is considered to belong to diseases with a proliferation of the
monocytic-histiocytic and dendritic cellular system. In the presence of symmetric
musculoskeletal symptoms associated with osteosclerotic and osteolytic lesions
particularly occurring in the long bones of the lower extremities and concomitant
with elevated serum markers of inflammation, the Erdheim-Chester disease should
be taken into account. To date, no validated therapy exists.
We report a patient with long standing ECD with widespread extraskeletal
involvement, including significant renal infiltration, presenting with left
hydronephrosis secondery obstruction from a proximal ureteric calculas.
15619170
We present a new case with histological data of both histiocytosis whose clinical
course included bone and muscle pain, insipidus diabetes, exophthalmos, bilateral
symmetrical sclerosing bone lesions and a cerebellar syndrome.
15628955
Erdheim-Chester disease is a rare nonfamilial histiocytic disorder of unknown
etiology with characteristic long bone findings. The 3-year survival rate for patients
with Erdheim-Chester disease is 50%. Approximately 50% of patients have disease
involvement in other tissues, including skin, retro-orbital and periorbital tissues,
pituitary-hypothalamic axis, heart, kidney, retroperitoneum, breast, skeletal muscle,
and sinonasal mucosa; about 20% of patients have lung involvement. Prognosis
generally depends on the extent of the extraosseous disease. For patients with
lung involvement, gender distribution is equal, but men typically present at an older
age than do women. Approximately 80% of patients present with dyspnea, and
most patients have diffuse interstitial infiltrates and pleural and/or interlobar septal
thickening on chest radiology. Characteristic lung histopathology includes the
accumulation of histiocytes with variable amounts of fibrosis and a variable
lymphoplasmacytic infiltrate in a lymphangitic distribution. Immunostains are
diagnostically useful, showing immunopositivity for CD68 and factor XIIIa and
immunonegativity for CD1a. Birbeck granules are uniformly absent ultrastructurally.
The aim of the study was to evaluate the effectiveness of different imaging
techniques with respect to diagnosis and differential diagnosis between ErdheimChester disease (ECD) and multifocal fibrosis (MF)/Ormond's disease (OD).
METHOD: Three cases of ECD were included, two of which were misdiagnosed as
MF/OD. Findings in different imaging techniques [plain radiography, skeletal
scintigraphy, computed tomography (CT) and magnetic resonance imaging (MRI)]
of the lower extremities, chest MRI, craniofacial MRI, abdominal CT and MRI) were
compared and ranked with regard to diagnostic efficacy. RESULTS: Differentiation
between ECD and MF/OD is only possible by imaging the long bones. Bone
roentgenograms and skeletal scintigraphy, followed by MRI and CT of the lower
extremities are the most effective imaging techniques. CONCLUSION: A low
threshold for carrying out plain radiography of the lower limbs in case of RF/MF will
increase the number of ECD-cases.
15578889
12/2/2015
16307316
15556598
2004
Dec
Diagn
Cytopathol
Erdheim-Chester
disease of the
brain: cytological
features and
differential
diagnosis of a
challenging case.
Rushing EJ,
Kaplan KJ, Mena
H, Sandberg
GD, Koeller K,
Bouffard JP
2004
Nov
J Clin Pathol
Sheu SY,
Wenzel RR,
Kersting C,
Merten R,
Otterbach F,
Schmid KW
2004
Nov
Klin Monatsbl
Augenheilkd
Erdheim-Chester
disease: case
report with
multisystemic
manifestations
including testes,
thyroid, and lymph
nodes, and a
review of literature.
[Erdheim-Chester
disease as
differential
diagnosis in
bilateral
exophthalmos]
2004
Nov
Medicine
(Baltimore)
Cardiovascular
involvement, an
overlooked feature
of Erdheim-Chester
disease: report of 6
new cases and a
literature review.
2004
Oct
Arch Soc Esp
Oftalmol
[Orbit
xanthogranulomato
sis. ErdheimChester disease]
Pg 98 of 139
Department of
Neuropathology and
Ophthalmic Pathology,
Armed Forces Institute
of Pathology,
Washington, DC 203066000, USA.
[email protected]
Institute of Pathology,
University of Essen,
45122 Essen, Germany.
[email protected]
We describe a case that presented in the brain of a 26-yr-old male patient and
clinically mimicked the appearance of a neoplasm. The final diagnosis was a
surprise. In retrospect, the diagnosis was suggested by the intraoperative "squash"
preparations, which demonstrated a mixed cellular proliferation of lymphohistiocytic
elements and large, multinucleated cells with vesicular nuclei, prominent nucleoli,
and abundant cytoplasm. To the best of our knowledge, this is the first report
detailing the cytopathological features of ECD.
15540182
This report describes the case of a 50 year old white man who presented with
hypogonadism and diabetes insipidus. At necropsy, extensive organ involvement
was found, including the testes, thyroid, and lymph nodes. This is the first report of
thyroid and lymph node infiltration in this disease. Because of the endocrinological
symptoms, neurosarcoidosis and hypophysitis are important diseases in the
differential diagnosis. This report also includes a review of the literature concerning
rare organ manifestations and patients presenting primarily with similar symptoms.
15509691
Röpke E, Herde
J, Bloching M
Klinik und Poliklinik für
Hals-, Nasen- und
Ohrenheilkunde, Kopfund Halschirurgie, Halle.
[email protected]
ni-halle.de
15562361
Haroche J,
Amoura Z, Dion
E, Wechsler B,
CostedoatChalumeau N,
Cacoub P,
Isnard R,
Généreau T,
Wechsler J,
Weber N, Graef
C, Cluzel P,
Grenier P, Piette
JC
Rozas Reyes P,
Señaris
González A,
González
Rodríguez CM
Interne, Hôpital PitiéSalpêtrière, Paris,
France.
[email protected]
This report describes the case of a patient who had symmetrical exophthalmos,
periorbital xanthelasmas and reduced vision. Next to Wegener's granulomatosis
the differential diagnosis of Erdheim-Chester disease is discussed. It concerns a
rare systemic histiocytosis of unknown etiology. Above all, the skeleton system with
symmetrical long bone osteosclerosis is affected. Manifestations in the area of the
orbit have seldom been reported with bilateral retrobulbar infiltrations,
exophthalmos, diplopia, compression of the optic nerve and periorbital
xanthelasmas.
Cardiovascular manifestations of ECD remain underestimated. We report 6 new
cases of ECD associated with periaortic fibrosis. In 4 of these cases, the whole
aorta had a "coated" aspect. A literature review revealed 66 cases of ECD with
cardiovascular involvement. We therefore analyzed 72 ECD patients with
cardiovascular involvement. Data concerning follow-up were available for 58
(80.6%) patients. Of these, 35 (60.3%) patients died, confirming the severe
prognosis of ECD. Cardiovascular complications were responsible for the death of
11 of the 35 patients (31.4%).
A patient was studied because of upper lid bilateral edema and xanthelasmae-like
lesions after three years of evolution. During the ophthalmologic examination
orange-yellowish lesions and two symmetrical tumours were observed on the
temporal part of both upper lids. Corticoid-therapy was undertaken which reduced
the size of the tumours, however the size increased again after the discontinuation
of treatment. A biopsy was performed and lid xanthogranulomatosis was
diagnosed. Other systemic examinations were normal. DISCUSSION: ErdheimChester disease is a xanthogranulomatosis that can affect ocular and periorbital
structures. Combination of xanthelasmae-like lesions and bilateral orbital masses
should make us consider this process and try to locate any associated systemic
conditions.
15523574
Central de Asturias,
Spain.
[email protected]
12/2/2015
15525849
2004
Oct
Headache
Familial hemiplegic
migraine,
neuropsychiatric
symptoms, and
Erdheim-Chester
disease.
Black DF, Kung
S, Sola CL,
Bostwick MJ,
Swanson JW
Mayo Clinic, Neurology,
USA.
2004
Oct
Virchows Arch
Erdheim-Chester
disease of the
breast associated
with Langerhanscell histiocytosis of
the hard palate.
Andrade VP,
Nemer CC,
Prezotti AN,
Goulart WS
2008
Apr
61: Eur Heart J;
Granier M,
Micheau A,
Serre I
2007
Jun
62: Ann
Hematol;
A rare cause of
cardiac tumour: an
Erdheim-Chester
disease with
cardiac
involvement coexisting with an
intracerebral
Langerhans cell
histiocytosis.
Erdheim-Chester
disease with
hemophagocytosis.
Fleury, Centro de
Medicina Diagnóstica,
Av. Gal Waldomiro de
Lima, 508. Jabaquara,
CEP 04344-070, Saõ
Paulo, Brazil.
[email protected]
om.br
Department of
Cardiology, Arnaud de
Villeneuve, Avenue du
Doyen G Giraud,
Montpellier 34000,
France.
2007
Jun
63: Br J
Haematol;
Multisystem
Erdheim-Chester
disease; a unique
presentation with
liver and axial
skeletal
involvement.
Gupta A, Aman
K, Al-Babtain M,
Al-Wazzan H,
Morouf R
Pg 99 of 139
Busemann C,
Kallinich B,
Schwesinger G,
Krüger W,
Schüler F,
Schmidt CA,
Dölken G
We report the occurrence of unilateral cerebral hemisphere edema with
subsequent cortical laminar necrosis in the setting of familial hemiplegic migraine
(FHM) and permanent neurologic sequelae after resolution of an attack in 1 patient.
Contemporaneous with this severe attack of FHM, the patient was found to exhibit
multiple systemic and neurological symptoms referable to Erdheim-Chester
disease (a rare non-Langerhans cell histiocytosis) that was confirmed by bone
biopsy. This case demonstrates the severity possible with a migrainous infarction
associated with FHM. The co-occurrence of two such rare entities in 1 patient
suggests a possible relationship.
We report a patient with Langerhans-cell histiocytosis (LCH) localized to the hard
palate that was later proven to be associated with Erdheim-Chester disease (ECD),
involving the right breast, skeleton, retroperitoneum and left orbit. Mammary
involvement by ECD is an extremely rare condition, which should be differentiated
from some benign and malignant mimickers, especially the histiocytoid type of
breast carcinoma. Characteristic histological features plus clinical and radiographic
information are needed to achieve a correct diagnosis. The ECD, its relation to the
LCH and details of the breast lesion are discussed.
15447701
15338304
18390872
Department of
Hematology and
Oncology, University
Medical Center, ErnstMoritz-Arndt-University
Greifswald,
Sauerbruchstraße,
17487, Greifswald,
Germany,
[email protected].
Department of
Haematology, Mubarak
Al- Kabeer hospital,
Faculty of Medicine,
Kuwait University,
Jabriya, Kuwait.
17579863
17553060
12/2/2015
2007
Jul
64: Arch
Dermatol;143(7)
:952-3
Verruca plana-like
papules as a new
manifestation of
erdheim-chester
disease.
Yanagi T, Kato
N, Yamane N,
Osawa R, Hiraga
H
2007
Jun
65: Hum
Pathol;38(6):95
0-1
Intracranial lesion
of Erdheim-Chester
disease.
Shimada S, Ono
K, Hashizume Y,
Nakaguro M,
Suzuki Y, Mori N
2007
Mar
66: Nephrol Dial
Transplant;
Erdheim-Chester
disease: a rare
cause of renal
failure.
2007
Apr
67:
Circulation;115(
16):e412-4
2007
Feb
68: J Am Coll
Surg;204(2):326
-7
2007
Jan
69: Clin Nucl
Med;32(1):35-8
Images in
cardiovascular
medicine. Magnetic
resonance imaging
guiding pacemaker
implantation for
severe sinus node
dysfunction due to
cardiac
involvement in
Erdheim-Chester
disease.
Mesenteric
panniculitis and
Erdheim-Chester
disease:
xanthogranulomato
us diseases
confused with
malignancy.
Tc-99m MDP bone
scintigraphy and
positron emission
tomography/compu
ted tomography
(PET/CT) imaging
in Erdheim-Chester
disease.
Verdalles U,
Goicoechea M,
García de
Vinuesa S,
Mosse A, Luño J
Elgeti T, Schlegl
M, Nitardy A,
Kivelitz DE,
Stockburger M
Pg 100 of 139
Department of
Dermatology, National
Hospital Organization
Hokkaido Cancer
Center, Kikusui 4-2,
Shiroishi-ku, 003-0804,
Sapporo, Japan.
[email protected]
.jp.
Currently, Department of
Pathology and Clinical
Laboratories/Nagoya
University Hospital
Previously, Department
of Pathology of
Biological Response,
Nagoya University
Graduate School of
Medicine, Nagoya 4668550, Japan.
Department of
Nephrology, Hospital
General Universitario
Gregorio Marañon,
Spain.
Department of
Radiology, CharitéUniversitätsmedzin
Berlin, Charitéplatz 1,
10117 Berlin, Germany.
[email protected]
e
17638752
Moore FO,
Berne JD, Fox
AD
East Texas Medical
Center, Tyler, TX, USA.
17254937
Namwongprom
S, Núñez R, Kim
EE, Macapinlac
HA
Medicine, The University
of Texas M.D. Anderson
Cancer Center,
Houston, Texas 77030,
USA.
[email protected]
mu.ac.th
17179801
17509397
17395655
17452611
12/2/2015
2006
Nov
70: J Nucl
Cardiol;13(6):86
7-9
2006
Sep
71: J Neurol
Neurosurg
Psychiatry;77(9)
:1078
2006
May
72: Leuk
Lymphoma;47(5
):935-7
2006
Feb
73: Clin Nucl
Med;31(2):90-2
2005
74: Rev Esp
Med
Nucl;24(6):423
2005
Aug
75: Eur J Nucl
Med Mol
Imaging;32(8):9
98
2005
Aug
2005
May
76: J R Soc
Med x;98(6):296
77: J
Radiol;86(5 Pt
1):527-30
Pg 101 of 139
Dramatic change of
Ga-67 citrate
uptake before and
after corticosteroid
therapy in a case of
cardiac
histiocytosis
(Erdheim-Chester
disease).
Neurological
picture. Torcular
Erdheim-Chester
disease.
Kudo Y, Iguchi
N, Sumiyoshi T,
Murai T, Oka T
Department of
Cardiovascular Internal
Medicine, Sakakibara
Heart Institute, Tokyo,
Japan. [email protected]
17174817
Gazzeri R,
Galarza M,
Amoroso R, De
Bonis C,
D'Angelo V
Department of
Neurosurgery, San
Giovanni Addolorata
Hospital, Rome, Italy.
[email protected]
om
16914757
18F-FDG positron
emission
tomographic
imaging in
Erdheim-Chester
disease with
skeletal and extraskeletal
involvement.
Tc-99m MDP bone
and Ga-67 citrate
scintigraphy of
Erdheim-Chester
disease in a child.
[Occult femoral
neck fracture in a
patient with
Erdheim-Chester
disease]
Nakahara T,
Suzuki T, Uno K,
Joishi D, Tanaka
C, Hashimoto J,
Kubo A
Erdheim-Chester
disease: 99mTcMDP bone scan
provides the
diagnosis.
Erdheim-Chester
disease.
[Case #5. ErdheimChester disease]
Sohn MH, Kim
MW, Kang YH,
Jeong HJ
Ramos-Font C,
Rebollo Aguirre
AC, Moral Ruiz
A, Bellón
Guardia M,
Cabello García
D, Llamas-Elvira
JM
Canbaz F,
Dabak N, Baris
S, Selcuk MB
Rhodes B,
Jawad AS
Cattin F, Runge
M, Magy N,
Dupont JL,
Bonneville JF
16753885
Medicine, Chonbuk
National University,
Chonbuk, Korea.
[email protected]
Nuclear, Hospital
Universitario Virgen de
las Nieves, Granada.
[email protected]
rg
16424695
Medicine, Ondokuz
Mayis University,
Samsun, Turkey.
15864582
16324522
15928398
Service de
Neuroradiologie, CHU Hôpital Jean-Minjoz,
Boulevard AlexanderFleming, 25030
Besançon.
16114215
12/2/2015
2005
Jan
78: Clin Nucl
Med;30(1):32-4
Radionuclide bone
imaging in
Erdheim-Chester
disease.
Núñez R, Tronco
GG, Rini JN,
Hofman J,
Amoashiy M,
Bhuiya T,
Palestro CJ
2005
Jan
79:
Radiology;234(1
):111-5
Case 78: ErdheimChester disease
with central
nervous system
involvement.
Adem C, Hélie
O, Lévêque C,
Taillia H,
Cordoliani YS
2004
Nov
80: AJR Am J
Roentgenol;183
(5):1253-60
Imaging of
thoracoabdominal
involvement in
Erdheim-Chester
disease.
Dion E, Graef C,
Haroche J,
Renard-Penna
R, Cluzel P,
Wechsler B,
Piette JC,
Grenier PA
2004
Oct
81:
Circulation;110(
15):e443-4
Images in
cardiovascular
medicine. High
resolution images
obtained with
ultrasound and
magnetic
resonance imaging
of pericarotid
fibrosis in ErdheimChester disease.
Gauvrit JY,
Oppenheim C,
Girot M, Lambert
M, Gautier C,
Hatron PY,
Pruvo JP,
Leclerc X
Pg 102 of 139
Division of Nuclear
Medicine, Department of
Radiology, Long Island
Jewish Medical Center,
New Hyde Park, New
York, USA.
[email protected]
c.tmc.edu
Department of
Radiology, Hôpital
d'Instruction des Armées
du Val-de-Grâce, 74
boulevard de Port Royal,
F-75005 Paris, France.
[email protected]
Department of
Radiology, Hôpital PitiéSalpêtrière, Assistance
Paris-Université Pierreet-Marie-Curie, 47-83
Boulevard de l'Hôpital,
75651 Paris Cedex 13,
France.
Department of
Neuroradiology and EA
2691, University
Hospital of Lille, Lille,
France. [email protected]
15604967
15618378
15505288
15477423
12/2/2015
2008
Feb
82: J Thorac
Imaging;23(1):712
CT-guided Biopsy
of Nonresolving
Focal Air Space
Consolidation.
Ferretti GR,
Jankowski A,
Rodière M,
Brichon PY,
Brambilla C,
Lantuejoul S
*Service Central de
Radiologie et Imagerie
Médicale ‡Département
de Chriurgie Thoracique
et Vasculaire
∥Département de
Pathologie Cellulaire,
INSERM U 823 †Service
Central de Radiologie et
Imagerie Médicale, CHU
Grenoble §INSERM U
823, Institut A Bonniot,
Grenoble, France.
2007
Aug
83: Semin
Diagn
Pathol;24(3):16
2-82
Histiocytic lesions
and proliferations in
the lung.
Wang CW,
Colby TV
Department of
Pathology, Mayo Clinic
College of Medicine,
Scottsdale, Arizona
85259, USA.
2006
Sep
84:
Orbit;25(3):2215
Orbital and eyelid
manifestations of
xanthogranulomato
us diseases.
Vick VL, Wilson
MW, Fleming
JC, Haik BG
Department of
Ophthalmology,
University of Tennessee
Health Science Center,
Memphis, Tennessee,
USA.
2006
Jun
85: J Fr
Ophtalmol;29(6)
:672-86
[Pathology of the
eyelid in elderly
patients]
Thomas L, Dalle
S
Service de
Dermatologie, Hôtel
Dieu, Lyon.
[email protected]
Pg 103 of 139
OBJECTIVES: To evaluate the diagnostic accuracy of percutaneous computed
tomography (CT)-guided coaxial core needle biopsy in patients with nonresolving
pulmonary focal air space consolidations and negative fiberoptic bronchoscopy
results. METHODS: From 1997 to 2005, 23 patients (11 woman, 12 men; age
range, 45 to 81 y; mean age, 66 y) presenting with nonresolving pneumonia
persisting more than 8 weeks (mean, 22 wk; range, 8 to 40 wk) with negative
fiberscopic results, underwent coaxial percutaneous biopsy using an automated
core needle (18-gauge) under CT guidance. Histologic and bacteriologic
evaluations were obtained. The final diagnosis was confirmed by surgical
pathology, culture results, or clinical follow-up. RESULTS: Specimens adequate for
histopathologic evaluations were obtained in 20 (87%) cases. Final diagnoses were
lung cancer (n=15) and benign diseases (infectious pneumonia, 3; lipoid
pneumonia, 1; Erdheim Chester disease: 1; and nonspecific chronic pneumonia,
3). Diagnostic yield of core needle biopsy was 78% (18 of 23). The sensitivity and
specificity for malignancy were 87% and 100%, respectively. Immediate
pneumothorax was present in 11 patients of cases, but only 2 patients required
pleural drainage. DISCUSSION: CT-guided lung biopsy using a core needle biopsy
provides a high degree of diagnostic accuracy and allows specific characterization
of nonresolving pulmonary focal air space consolidation.
Pulmonary lesions encountered by the pathologist in which histiocytes are the
dominant finding histologically are reviewed. Lesions discussed include neoplasms
of histiocytes and nonneoplastic processes. Entities of uncertain histogenesis,
including Rosai-Dorfman disease and Erdheim-Chester disease, are also
discussed. Qualitative features of the histiocytes are addressed, including the
presence of foreign dust, hemosiderin, foamy change, and histiocytes showing
features of Langerhans' cells.
Erdheim-Chester disease, adult periocular xanthogranuloma, juvenile
xanthogranuloma, and necrobiotic xanthogranuloma are presumed to be separate
disease entities, but they are often confused clinically because of their similar
presentations and histopathology. To further describe the xanthogranulomatous
diseases and to identify possible pitfalls in their diagnoses, we retrospectively
reviewed charts from 1998 to 2001 for all patients with biopsy-proven
xanthogranulomatous process of the eyelid and/or orbit. We found 2 patients
diagnosed with adult periocular xanthogranuloma and 1 with Erdheim-Chester
disease, each case initially misdiagnosed. Careful review of the clinical
manifestations, histopathological review of all previous biopsy specimens, and
repeat biopsy aided in the correct diagnosis and management of disease in these 3
patients.
Pathology of the eyelids in elderly patients is extremely polymorphic. It is mainly
centered on skin cancers (basal cell carcinoma, squamous cell carcinoma, adnexal
carcinomas, and melanoma). Most severe aspects of the inflammatory diseases of
the eyelid are bullous diseases (cicatricial pemphigoid, pemphigus, StevensJohnson syndrome, etc.). A number of rare diseases deserve mention since their
presence could lead to the diagnosis of internal or systemic diseases
(dermatomyositis, necrobiotic xanthogranuloma, Erdheim-Chester, etc.). In such
conditions, early diagnosis is often based on the observation of isolated periocular
symptoms. CONCLUSIONS: Even though topographic dermatology is a somewhat
reductive vision of skin diseases, pathology of the eyelids deserves special
mention because of its polymorphism as well as its diagnostic and/or therapeutic
significance.
12/2/2015
18347513
17882900
16987770
16885900
2006
May
86: Br J
Ophthalmol;90(
5):602-8
Adult
xanthogranulomato
us disease of the
orbit and ocular
adnexa: new
immunohistochemi
cal findings and
clinical review.
2006
Mar
87: Neth J
Med;64(3):8890
Pleural thickening
in a construction
worker: it is not
always
mesothelioma.
2006
Feb
88:
Rheumatology
(Oxford);45(2):1
92-5
2005
89:
Radiographics;2
5(3):719-30
Pg 104 of 139
Sivak-Callcott
JA, Rootman J,
Rasmussen SL,
Nugent RA,
White VA,
Paridaens D,
Currie Z, Rose
G, Clark B,
McNab AA,
Buffam FV,
Neigel JM,
Kazim M
Saboerali MD,
Koolen MG,
Noorduyn LA,
van Delden OM,
Bogaard HJ
Department of
Ophthalmology, West
Virginia University Eye
Institute, Morgantown,
26505, USA.
[email protected]
BACKGROUND/AIMS: Adult xanthogranulomatous disease involving the ocular
tissues is rare and poorly understood. Adult onset xanthogranuloma (AOX), adult
onset asthma and periocular xanthogranuloma (AAPOX), necrobiotic
xanthogranuloma (NBX), and Erdheim-Chester disease (ECD) are the four
syndromes within this disorder, which is diagnosed by characteristic
histopathology. 22 cases, including histopathological slides, were compiled. 137
cases were compiled. Adult xanthogranuloma of the orbit is rare, making
prospective evaluation or meta-analysis impossible. The best treatment is unknown
but seems to be with multiagent chemotherapy guided by histopathological,
immunohistochemical, and systemic findings.
16622091
Department of
Academic Medical
Centre, Amsterdam, the
Netherlands.
16547363
Diagnostic value of
blind synovial
biopsy in clinical
practice.
Kroot EJ, Weel
AE, Hazes JM,
Zondervan PE,
Heijboer MP,
van Daele PL,
Dolhain RJ
Erasmus MC,
Department of
Rheumatology, Z-712,
PO Box 2040, 3000 CA
Rotterdam, The
Netherlands.
Unusual
nonneoplastic
peritoneal and
subperitoneal
conditions: CT
findings.
Pickhardt PJ,
Bhalla S
Department of
Wisconsin Medical
School, Madison, WI
53792, USA.
[email protected]
gy.wisc.edu
We describe the case of a 45-year-old man presenting with chest pain and pleural
effusions. These symptoms were progressive over a period of three years, with
pericardial involvement and respiratory insufficiency finally resulting in death.
Despite repeated diagnostic procedures, a final diagnosis could only be made at
autopsy. Multisystem foamy histiocyte infiltration suggested the diagnosis of
OBJECTIVE: To assess the diagnostic value of blindly performed synovial biopsies
in carefully selected patients with unclassified arthritis. METHODS: Synovial tissue
was Four patients with unclassified arthritis could be diagnosed properly based
upon examination of synovial tissue of the knee obtained by an easy-to-perform
blind biopsy. The arthritis of the four patients was diagnosed as being part of
Erdheim-Chester disease, sarcoidosis, multicentric reticulohistiocytosis and arthritis
caused by foreign-body material, respectively. CONCLUSIONS: Analysis of
synovial tissue obtained during a blind biopsy procedure has diagnostic potential in
carefully selected patients with unclassified arthritis. The common denominator in
all the cases presented was a differential diagnosis consisting of a rheumatological
disease with characteristic histological features.
Peritoneal disease can manifest at computed tomography (CT) as fluid
accumulation within the peritoneal cavity (ascites) or soft-tissue infiltration of the
various peritoneal ligaments and mesenteries. Beyond the commonly encountered
cases of typical ascites and peritonitis, there is a wide spectrum of uncommon
nonneoplastic conditions that may involve the peritoneal and subperitoneal spaces.
For example, systemic or organ-based diseases that occasionally involve the
peritoneum include eosinophilic gastroenteritis, amyloidosis, extramedullary
hematopoiesis, Erdheim-Chester disease, sarcoidosis, and mesenteric cavitary
lymph node syndrome. Tumorlike conditions that may affect the peritoneum include
aggressive fibromatosis (desmoid), inflammatory pseudotumor, retractile
mesenteritis, and Castleman disease. Atypical peritoneal infections include
tuberculosis, actinomycosis, echinococcosis, Whipple disease, and mesenteric
adenitis. Conditions involving the subperitoneal fat include epiploic appendagitis,
mesenteric panniculitis, and segmental omental infarction, all of which have
characteristic CT findings. CT is an excellent imaging modality for detection and
characterization of peritoneal involvement from these unusual diseases.
12/2/2015
16234280
15888621
2005
Mar
90: J Vasc
Surg;41(3):45761
Use of the
ascending aorta as
bypass inflow for
treatment of
chronic intestinal
ischemia.
Chiche L, Kieffer
E
Department of Vascular
Surgery, PitiéSalpêtriére University
Hospital, 47-83
boulevard de l'Hôpital,
Assistance PubliqueHopitaux de Paris, Paris,
France.laurent.chiche@
psl.ap-hop-paris.fr
2005
Feb
91: Clin
Radiol;60(2):17
1-88
The dural tail sign-beyond
meningioma.
Guermazi A,
Lafitte F, Miaux
Y, Adem C,
Bonneville JF,
Chiras J
Department of
California, San
Francisco, USA.
[email protected]
m
2004
Nov
92: J
Neurosurg;101(
5):864-8
Preoperative stent
placement for
intradural vertebral
artery stenosis from
a rare
xanthogranuloma.
Case report.
Boulos AS,
Deshaies EM,
Qian J, Popp AJ
Department of Surgery,
Division of Neurosurgery
Albany Medical Center,
Albany, New York
12208, USA.
[email protected]
2007
Mar
94: Br J
Radiol;80(951):
227-9
An unusual cause
of knee pain.
Charest M,
Haider EA, Rush
C
Medicine, Division of
Radiology, Jewish
General Hospital, McGill
University, Room G-19,
3755 Cote St. Catherine
Road, Montreal,
Quebec, H3T 1E2,
Canada.
[email protected]
Pg 105 of 139
In this report, we describe our experience with an antegrade bypass technique
from the ascending aorta in patients with no other available inflow. METHODS:
From April 1990 to May 2004, we performed antegrade bypass from the ascending
aorta to the celiac artery, superior mesenteric artery (SMA), or both in five patients.
These cases accounted for 2.4% of the 211 patients who underwent surgery on
intestinal arteries during the study period. Results: Four patients presented with
symptomatic CII, and one patient had no intestinal ischemic symptoms. The
underlying disease was Takayasu disease in two cases, Erdheim-Chester disease
in one case, chronic aortic dissection in one case, and atherosclerosis in one case.
CONCLUSION: Antegrade intestinal artery bypass from the ascending aorta is an
effective alternative for patients who have no other available inflow for conventional
antegrade or retrograde bypass and for patients in whom major technical difficulties
are likely after multiple exposures of the thoracoabdominal aorta. Although
indications are uncommon, antegrade intestinal artery bypass can provide durable
revascularization of the intestine.
There have been somewhat conflicting reports published about the significance of
linear meningeal thickening and enhancement adjacent to peripherally located
cranial mass lesions on contrast-enhanced magnetic resonance (MR) images.
Most of the authors consider this so-called "dural tail sign" or "flare sign" almost
specific for meningioma. This review illustrates the MR imaging findings of a wide
spectrum of disorders that show this dural sign. Causes include other extra-axial
lesions and also peripherally located intra-axial lesions such as neuromas,
chloromas, metastases, lymphoma, gliomas, pituitary diseases, granulomatous
disorders, and also cerebral Erdheim-Chester disease. The dural tail sign is not
specific to a particular pathological process. Nevertheless, useful conclusions can
be drawn from the morphology of the lesion, its enhancement pattern, and its
solitary or multifocal presentation. The final diagnosis must be based on
cerebrospinal fluid studies or histological studies after biopsy.
In this report, the authors discuss a novel use of intradural vertebral artery (VA)
stent placement to protect a tumor-encased vessel from injury during lesion
resection. The tumor was a rare foramen magnum region xanthogranuloma and a
component of Erdheim-Chester disease (ECD). This 64-year-old man presented
with large masses encasing and compressing the intracranial segments of each
VA. Preoperatively, a left VA stent was placed to protect the arterial wall during
resection of the tumor. Histopathological study results on the subtotally resected
mass were consistent with xanthogranuloma, a rare benign histiocytic tumor
frequently occurring in patients with ECD. Further radiographic evaluation in the
patient revealed an osteolytic lesion of the eleventh thoracic vertebra supporting
the diagnosis of ECD disease. Based on this case study, the authors recommend
the following: 1) tumor-encased vessels can be protected preoperatively by stent
placement to assist with tumor debulking; and 2) patients diagnosed with a
xanthogranuloma should be evaluated for multisystem involvement consistent with
ECD.
15838480
15664571
15540929
17548507
12/2/2015
2006
Aug
95:
Pathologica;98(
4):211-23
[Diagnostic utility of
macrophages in
interstitial lung
disease]
Cavazza A,
Rossi G,
Barbareschi M,
Damiani S,
Cancellieri A,
Murer B
2006
Apr
96: Clin Orthop
Relat
Res;445:261-8
Bilateral lower
extremity
discomfort in a 64year-old woman.
Bugnone AN,
Temple HT,
Humble S
2005
Jun
97: Arch Soc
Esp
Oftalmol;80(6):3
29
98: Arch Soc
Esp
Oftalmol;80(6):3
29-30
99: J R Soc
Med;98(4):1656
[Non-Langerhans'
cell histiocytosis]
E MencíaGutiérrez
15986272
[Orbital
xanthogranulomato
sis]
Mateos G
Blanco
15986271
Renal bone
disease.
Lee JH, Stodell
M, Fowler JC
2005
Jan
100: AJNR Am
J
Neuroradiol;26(
1):34-8
Intradural spinal
vein enlargement in
craniospinal
hypotension.
Burtis MT, Ulmer
JL, Miller GA,
Barboli AC, Koss
SA, Brown WD
2005
May
1: Skeletal
Radiol;34(5):29
9-302
Erdheim-Chester
disease in a child
with MR imaging
showing regression
of marrow changes.
Joo CU, Go YS,
Kim IH, Kim CS,
Lee SY
2005
Jun
2005
Apr
Pg 106 of 139
Unità Operative di
Anatomia Patologica,
Ospedale S. Maria
Nuova di Reggio Emilia,
Italy.
cavazza.alberto@asmn.
re.it
Department of
Miami School of
Medicine, Miami,
Florida, USA.
[email protected]
Luton and Dunstable
NHS Trust, Lewsey
Road, Luton LU4 0DZ,
UK.
Division of
Neuroradiology,
Department of
Radiology, Medical
Milwaukee, WI 53226,
USA.
Department of
Pediatrics, Chonbuk
National University
Medical School, 561-712
Jeonbuk, Korea.
17175789
16601420
15805559
We present a case of craniospinal hypotension in a 45-year-old woman with an
associated epidural pseudomeningocele extending the entire length of the spine.
The epidural pseudomeningocele was caused by a CSF leak at the T8 level. In
addition to typical low-pressure symptoms, the epidural pseudomeningocele
caused atypical symptoms characterized by positional thoracic radiculopathy.
Craniospinal hypotension was associated with massive cervical epidural venous
engorgement, as well as enlargement of the posterior spinal cord vein, which was
reminiscent of a dural arteriovenous fistula at CT myelography. Enlargement of the
posterior spinal vein is explained by the Monro-Kellie hypothesis, and the spinal
analog to enlarged cerebral veins known to be associated with intracranial
hypotension.
We report a case of Erdheim-Chester disease in a 10-year-old girl evaluated with
MR imaging. Radiographs revealed typical bilateral, symmetric osteosclerosis of
the metaphyseal regions of long bones of the upper and lower extremities.
RESULTS: A histologic examination demonstrated foamy histiocytes in bone
marrow smears. Bilateral symmetric low signal intensities of both proximal tibiae
and distal femurs were demonstrated on T1-weighted MR images. After oral steroid
therapy for 8 months, follow-up MR imaging showed remarkable restoration of
normal high signal intensity in both the tibial and femoral metaphyses.
CONCLUSION: To our knowledge, this may be the first case of Erdheim-Chester
disease that showed normal restoration of the abnormal signal intensities in the
metaphyses of long bones after steroid therapy.
12/2/2015
15661695
15480644
2004
Sep
12: Graefes
Arch Clin Exp
Ophthalmol;242
(9):803-7
Erdheim-Chester
disease: a case
report.
Hoffmann EM,
Müller-Forell W,
Pitz S, Radner H
Department of
Ophthalmology,
University of Mainz,
Langenbeckstr.1, 55131
Mainz, Germany.
[email protected]
2004
Sep
13: J
Neurosurg;101(
3):521-7
Diagnosis of
Erdheim-Chester
disease by using
computerized
tomography-guided
stereotactic biopsy
of a caudate lesion.
Case report.
Tashjian V,
Doppenberg EM,
Lyders E,
Broaddus WC,
Pavot P, Tye G,
Liu AY, Perez J,
Ghatak N
Department of
Neurosurgery, Medical
College of Virginia
Hospitals, Virginia
Commonwealth
University, Richmond,
Virginia 23298-0631,
USA.
2004
14: Endocr
Pathol;15(2):15
9-66
Pituitary pathology
in Erdheim-Chester
disease.
Kovacs K, Bilbao
JM, Fornasier
VL, Horvath E
Department of
Pathobiology, St.
Michael's Hospital,
University of Toronto,
Toronto, Ontario M5B
1W8, Canada.
[email protected]
n.ca
Pg 107 of 139
A 61-year-old man presented with bilateral exophthalmos and progressive loss of
visual function caused by chorioretinal folds and papillary swelling due to
retrobulbar pseudotumor. Retrobulbar radiotherapy (20 Gy) and long-term systemic
corticosteroid treatment followed. Although the retroperitoneal involvement
decreased, no significant effect on orbital involvement was achieved. A second
review of the orbital biopsy revealed foamy cell infiltration and the presence of a
sclerotic process. Immunohistochemical examination demonstrated positive CD 68
stains, whereas S-100 and CD 1a were negative, thus confirming ECD. The
histologic finding was comparable to a biopsy of the retroperitoneum. Endonasal
decompression was performed but visual acuity (VA) decreased to 20/250 in the
right eye and on finger counting in the left eye. The patient continues to be under
therapy with prednisolone 20 mg/day and methotrexate 25 mg/week.
CONCLUSIONS: The clinical orbital manifestation of ECD occurs in two different
forms: one presenting as a mild impairment of visual function, while the second,
clinical form, observed in our patient, is characterized by a progressive loss of VA
despite therapeutic efforts such as immunosuppressive systemic therapy, radiation,
and surgery. The described case illustrates that clinical findings in multifocal
fibrosclerosis overlap with those observed in ECD.
A 27-year-old woman with Erdheim-Chester disease (ECD) and extensive
intracranial involvement, in whom the initial diagnosis of ECD was established
based on computerized tomography (CT)-guided stereotactic biopsy of a caudate
lesion. In the setting of neurological involvement, neurosurgical biopsy has been
reported seven times in the literature, with only one of these biopsies being the
basis for the initial diagnosis of the disease. The authors' case represents only the
second time the disease has been diagnosed by means of neurosurgical biopsy,
highlighting the diagnostic difficulties that patients with EDC present. Skeletal
radiographs were confirmatory in this case and this modality should be emphasized
as the simplest and most direct route to the diagnosis. The degree of neurological
involvement further distinguishes the case presented from prior reports in the
literature. The multiple bilateral intraaxial lesions were intensely enhancing on
contrast CT scans, distributed infra- and supratentorially, involving both white and
gray matter, and associated with diffuse cerebral edema. The case presented is
also remarkable by virtue of the symmetrical involvement of the caudate nuclei,
representing the first such example documented in the literature. The diagnosis,
treatment, and outcome in this patient are discussed, and a review of the literature
is presented.
We report here the histologic and immunohistochemical findings in the autopsy
obtained pituitary of a 35-yr-old woman with extensively disseminated ErdheimChester disease. It can be concluded that prolactin cell hyperplasia may be the
only finding in the adenohypophysis of patients with disseminated Erdheim-Chester
disease. It appears that in our patient the clinically apparent anterior
hypopituitarism was not due to the lack of storage but rather to insufficient release
of adenohypophysial hormones caused by the defect in hypothalamic regulation.
12/2/2015
15221300
15352612
15299202
2004
Jun
15: Arch Pathol
Lab
Med;128(6):682
-5
Myocardial
involvement in
Erdheim-Chester
disease.
Loeffler AG,
Memoli VA
Department of
Pathology, DartmouthHitchcock Medical
Center, Lebanon, NH
03756, USA.
[email protected]
2004
Jun
16: J
Neurosurg;100(
6):1115-8
Erdheim-Chester
disease mimicking
a primary brain
tumor. Case report.
Department of
Neuropathology, Armed
Forces Institute of
Pathology, Washington,
DC 20306-6000, USA.
[email protected]
2004
May
17: Clin
Ter;155(5):2058
[Erdheim-Chester
disease: a nonLangerhans cell
histiocytosis. A
clinical-case and
review of the
literature]
Rushing EJ,
Bouffard JP,
Neal CJ, Koeller
K, Martin J,
Ozdemirli M,
Mena H, Ecklund
JM
Valentini D,
Cappelli C,
Mizzoni F, Noto
C, Toscano D,
Foco M,
Trasimeni G
2004
May
18: Rev Neurol
(Paris);160(5 Pt
1):585-8
[Cerebral ErdheimChester disease]
Taillia H, de
Greslan T, Adem
C, Talarmin F,
Renard JL,
Flocard F
Service de Neurologie,
Hôpital d'Instruction des
Armées du Val-deGrâce, Paris.
2004
Apr
19: AJNR Am J
Neuroradiol;25(
4):627-30
Erdheim-Chester
disease: MR
imaging, anatomic,
and histopathologic
correlation of orbital
involvement.
De Abreu MR,
Chung CB,
Biswal S,
Haghighi P,
Hesselink J,
Resnick D
Department of
Radiology, Hospital Mae
de Deus e Mae de Deus
Center, Porto Alegre,
Brazil.
Pg 108 of 139
Servizio di Oncologia
Clinica Pediatrica,
Università degli Studi di
Roma La Sapienza,
Roma, Italia. [email protected]
While the osseous and systemic changes have been well documented in the
current literature, pathologic changes in the myocardium have not been well
characterized since Erdheim and Chester's first description of this disease in 1930.
In the 2 autopsy cases from Dartmouth-Hitchcock Medical Center (Lebanon, NH)
reported in the present study, myocardial involvement was severe and had
contributed significantly to the patients' morbidity and death. We describe the
autopsy results and correlate them with Erdheim's original descriptions of this
disease. In neither of our cases was bony involvement characteristic of the
disease, and the diagnosis was made postmortem on the basis of soft tissue
findings at autopsy.
Case of a 26-year-old man diagnosed with seizures and a well-circumscribed
temporoparietal mass that had been demonstrated on imaging studies. Both
preoperative and intraoperative diagnoses were consistent with a low-grade
astrocytic neoplasm. Subsequent pathological examination indicated a histiocytic
proliferation positive for CD68 and factor VIII, and negative for CD1a and S100,
with Touton giant cells characteristic of ECD. This case represents the first isolated
occurrence of intracranial ECD and its potential to mimic glial neoplasms.
We report a case of Erdheim-Chester disease and review 60 cases from the
literature. These cases are consider to have Erdheim-Chester disease when they
have either typical bone radiographs (symmetrical long bones osteosclerosis)
and/or histologic criteria disclosing histiocytic infiltration with distinctive
immunohistochemical phenotype of the non-Langerhans cell histiocytes with
positive staining for CD68 and negative staining for S-100 protein and CD1a. Our
patient undergoes chemiotherapy according to the LCH-II stratification and therapy
plan (Vinblastine, Etoposide and Prednisone) and thereafter receives Carboplatin
and Etoposide, and Somatostatin. She is alive and clinically well 33 months after
onset of symptoms and the lesions don't appear to progress at imaging
examinations. In conclusion, Erdheim-Chester disease may be confused with
Langerhans cell histiocytosis as it sometimes shares the same clinical
(exophthalmos, diabetes insipidus) or radiologic (osteolytic lesions) findings.
However, the characteristics radiological pattern of Erdheim-Chester disease
together the immunohistochemical phenotype of hystiocytic infiltration supports the
theory that Erdheim-Chester disease is a unique disease entity distinct.
We report the case of a 26-old-year man hospitalized for first partial complex
epileptic seizure. Brain MRI showed an asymptomatic pseudo-tumor lesion in the
brainstem. Diabetes insipidus, hypophyseal gonadotropic deficiency and
osteosclerosis of long bones strongly suggested Erdheim-Chester disease, a rare
histiocytosis, confirmed after tibial biopsy. Six months later, the patient remained
stable. A persistent, and even increased, enhancement with Gd-DTPA on brain MR
images was noted as previously described. The review of the literature collected 64
cases, and only 7 cases of cerebral "tumor".
Erdheim-Chester disease (ECD) is a rare form of histiocytosis of unknown origin
characterized by tissue infiltration by lipid-laden histiocytes. Typically, the
diaphyseal and metaphyseal portions of the tubular bones are affected, leading to
a characteristic radiographic pattern of bone sclerosis. Orbital involvement is not
infrequent and is manifested by exophthalmos and periorbital xanthomatous
lesions, with associated visual problems. This case report documents imaging and
pathologic findings in a patient with ECD with extensive orbital involvement.
12/2/2015
15163229
15200134
15344569
15269681
15090356
2004
Feb
20: Clin
Rheumatol;23(1
):52-6
Improvement of
Erdheim-Chester
disease in two
patients by
sequential
treatment with
vinblastine and
mycophenolate
mofetil.
Jendro MC,
Zeidler H,
Rosenthal H,
Haller H,
Schwarz A
Department of
Rheumatology, Medical
School Hannover,
Hannover, Germany.
michael.jendro@uniklini
k-saarland.de
We report two patients who presented initially with different clinical symptoms. The
presenting complaint of the first patient was bone pain, predominantly in the legs,
whereas in the other patient the initial symptoms were related to obstruction of both
ureters, as in idiopathic retroperitoneal fibrosis. Ultimately, ECD was diagnosed in
both patients by the occurrence of both pathognomonic manifestations, the
histologic presence of non-Langerhans' histiocytes in bone biopsies, and
osteosclerotic lesions of the long bones. Because the extraosseous manifestations
progressed and a single application of corticosteroids was ineffective, sequential
treatment with vinblastine and mycophenolate mofetil, together with prednisolone,
was started. At follow-up respectively 15 and 16 months after the start of treatment
a beneficial effect was noted in both patients. These cases illustrate the clinical
spectrum of ECD, detail the pathognomonic manifestations of this rare disease,
emphasize the need to consider ECD as an uncommon but important differential
diagnosis in patients with arthralgias or systemic fibrosis, and give the first
evidence for a new treatment option.
14749985
2004
Feb
21: Recenti
Prog
Med;95(2):1047
[Erdheim-Chester
disease]
Caramaschi P,
Biasi D, Lestani
M, Carletto A,
Bonella F,
Bambara LM
Dipartimento di Medicina
Clinica e Sperimentale,
Università, Verona.
After the observation of 2 cases we have reviewed the
literature; we think useful to present the principal features of
the disease, which is likely more frequent than expected;
Erdheim-Chester disease is rarely diagnosed because of the
poor knowledge of the disease, which is not reported on the
common textbooks of medicine.
15072396
2004
Jan
22: AJNR Am J
Neuroradiol;25(
1):134-7
Erdheim-chester
disease mimicking
multiple
meningiomas
syndrome.
Johnson MD,
Aulino JP,
Jagasia M,
Mawn LA
Department of
Pathology, Vanderbilt
Medical School,
Nashville, TN 37232,
USA.
14729543
2004
23: Mol Imaging
Biol;6(1):63-7
Positron emission
tomography/compu
ted tomography of
a rare
xanthogranulomato
us process:
Erdheim-Chester
disease.
Pereira Neto CC,
Roman C,
Johnson M,
Jagasia M,
Martin WH,
Delbeke D
Department of
Radiology, Vanderbilt
University Medical
Center, Nashville, TN,
USA.
We describe a rare case of non-Langerhans histiocytosis, consistent with ErdheimChester disease (ECD), which presented with lesions resembling multiple
meningiomas. The patient was initially evaluated for migraine headaches. Initial
MR imaging demonstrated a parasellar mass and a second mass near the torcula
considered to represent meningiomas. Within 1 year, he developed bilateral orbital
lesions surrounding both optic nerves, which were also considered meningiomas.
Biopsy of one orbital mass revealed a non-Langerhans histiocytosis. Subsequently,
soft tissue masses, a pericardial effusion, and bone lesions consistent with ECD
were identified.
A 37-year-old male with cerebral and periorbital lesions was diagnosed with this
rare disease and was evaluated with magnetic resonance imaging (MRI) and 2deoxy-2-[(18)F]fluoro-D-glucose (FDG) with positron emission
tomography/computed tomography (PET/CT) imaging at baseline and following
therapy. FDG-PET imaging allowed accurate evaluation of the extent of the
disease at baseline, as well as assessment of response to therapy.
Pg 109 of 139
12/2/2015
15018830
2004
24: Angiol
Sosud
Khir;10(4):22-9
A comparative
study of the aortic
wall in patients with
Marfan's syndrome
and Erdheim's
disease.
Sheremet'eva
GF, Ivanova AG,
Belov IuV, Gens
AP, Kocharian
EZ
2004
Jun
27: Br J
Ophthalmol;88(
6):844-7
Treatment of
Erdheim-Chester
disease with
cladribine: a
rational approach.
2004
Apr
28: J Clin
Neurosci;11(3):
288, 299
2004
Jul
31: Ophthal
Plast Reconstr
Surg;20(4):32932
Images in
neuroscience:
question. ErdheimChester disease.
Adult orbital
xanthogranuloma
with associated
adult-onset asthma.
Myra C, Sloper
L, Tighe PJ,
McIntosh RS,
Stevens SE,
Gregson RH,
Sokal M, Haynes
AP, Powell RJ
DH Ma
2003
Dec
2: Clin
Rheumatol;22(6
):464-6
Pg 110 of 139
Aggressive and
atypical
manifestations of
Erdheim-Chester
disease.
The materiel of intraoperative biopsies (378) and autopsies was used to study the
morphology of the aortic wall in patients with Marfan's syndrome (62) and
Erdheim's disease (133). Histological, histochemical and electron microscopy
research methods were employed with an assay of the results obtained. It has
been demonstrated that in connective tissue dysplasia in the aorta, the histological
structure of the intima undergoes substantial changes alongside the pathology of
the tunica media. It is marked by the formation of a focal and diffuse thickening with
the predominance of the interstitial substance, rich in glycosaminoglycans, and of a
small amount of fibrous structures. The morphological signs of the impairment of
endothelial permeability (vacuolisation of cytoplasm, thinning of its peripheral
portions and basal membrane, expansion of intercellular fissures) are identifiabe,
which leads to the disorder of aortic wall metabolism and early development of
atherosclerosis. The changes in the intima together with the pathology of the tunica
media ere predisposing factors of aneurysm formation, dissection and rupture of
the aorta.
15627131
15148234
Neurology Department,
Royal Melbourne
Hospital, Australia.
Hammond MD,
Niemi EW, Ward
TP, Eiseman AS
Ophthalmic Services,
Walter Reed Army
Georgia Avenue,
Washington, D.C.
20307-5001, U.S.A.
Lyders EM,
Kaushik S,
Perez-Berenguer
J, Henry DA
Medical College of
Virginia Hospital,
Virginia Commonwealth
University, Richmond,
VA 23298-0615, USA.
14975419
: The authors report a case of adult orbital xanthogranuloma with associated adultonset asthma in a 44-year-old man. Adult orbital xanthogranuloma was diagnosed
on the basis of the clinical findings of bilateral, indurated, yellow eyelid lesions in a
patient presenting with adult-onset asthma. Incisional biopsy of the eyelid lesions
demonstrated a diffuse histiocytic infiltrate of the orbit and Touton giant cells
without evidence of necrobiosis. Systemic evaluation failed to show evidence of
bone lesions or paraproteinemia. When patients present with atypical indurated
yellow eyelid lesions, a biopsy should be considered. If Touton giant cells are
present, a systemic evaluation should be undertaken to rule out both ErdheimChester disease and necrobiotic xanthogranuloma. If no systemic findings are
present, other than the possibility of adult-onset asthma, the rare entity of adult
orbital xanthogranuloma should be considered.
Erdheim-Chester disease (ECD) is a disseminated non-Langerhans' cell
histiocytosis with multisystem involvement, including characteristic sclerotic
musculoskeletal lesions. We present the case of a 27-year-old woman with a
fulminant course and atypical involvement by ECD manifesting as extensive
cerebrovascular disease and lytic musculoskeletal lesions. This case represents an
unusual and aggressive presentation of ECD owing to the patient's young age, the
severity of the cerebrovascular involvement and the lytic osseous lesions.
12/2/2015
15266154
14677030
2003
Nov
3:
Thorax;58(11):1
004-5
Erdheim-Chester
disease: pulmonary
infiltration
responding to
cyclophosphamide
and prednisolone.
Bourke SC,
Nicholson AG,
Gibson GJ
Consultant Respiratory
Physician, Northumbria
Healthcare Trust and
Freeman Hospital,
Newcastle upon Tyne,
UK.
[email protected]
2003
4: Clin
Neuropathol;22(
5):246-51
Extracerebral
subdural
manifestation of
Chester-Erdheim
disease associated
with a giant
adenoma of the
pituitary.
Thorns V,
Zajaczek J,
Becker H, Walter
GF, Hori A
Institute of
Neuropathology,
Hannover Medical
School, Hannover,
Germany.
[email protected]
2003
Aug
5: Arch Pathol
Lab
Med;127(8):e33
7-9
Erdheim-Chester
disease: a unique
presentation with
liver involvement
and vertebral
osteolytic lesions.
Ivan D, Neto A,
Lemos L, Gupta
A
2003
Aug
6: Australas J
Dermatol;44(3):
194-8
Erdheim-Chester
disease.
Opie KM, Kaye
J, Vinciullo C
Department of
Pathology and
Medical School,
University of Texas,
Houston, Tex 77030,
USA.
[email protected]
Department of
Dermatology, Royal
Perth Hospital, Perth,
Western Australia,
Australia.
2003
7: Rev Esp Med
Nucl;22(4):2536
[Bone scintigraphy
in Erdheim-Chester
disease]
Pena Pardo FJ,
Banzo Marraco I,
Quirce Pisano R,
Hernández
Allende R, Carril
Carril JM
Pg 111 of 139
Nuclear. Hospital
Universitario Marqués
de Valdecilla.
Universidad de
Cantabria. Santander.
España.
[email protected]
We report the case history of a 55 year old man with this condition with extensive
and progressive pulmonary disease. He had no response to prednisolone alone,
but treatment with prednisolone plus cyclophosphamide was associated with a
rapid improvement in symptoms, lung function, and the chest radiographic
appearance. He subsequently showed a symptomatic, functional, and radiological
deterioration, followed by a marked slowing in the rate of decline. He currently
remains stable 41 months after treatment was initiated. This is the first report of
pulmonary Erdheim-Chester disease showing improvement in both lung function
and symptoms with any form of treatment.
Here we present a case of a 55-year-old woman who developed an exophthalmus,
edema and dyspnea, finally leading to death 4 months post admission to the
hospital. A cMRI showed a retrobulbar fibrosis, a tumor in the sella turcica, and
further tumor formation expanding from the pons to the spinal cord, but without
involvement of the dural sheet. Autopsy revealed multiple tumors attached to the
pituitary gland, the tentorium, and the brainstem as well as a diffuse thickening of
the dura. Histologically, the tumor tissue consisted of densely packed lipid-laden
foamy macrophages positive for CD68 and intervening fibrillary cords. Interestingly,
tumor cells did not infiltrate/affect the parenchyma but showed a strictly
extracerebral/ subdural location. In addition, sections of the pituitary tumor revealed
a chromophobe giant adenoma of the pituitary gland. As to our knowledge this is
the first detailed description of an exceptional case of intracranial CED presenting
with strictly extracerebral/subdural tumor masses accompanied by a giant
adenoma of the pituitary gland.
Although most of the cases have symmetric osteosclerosis of the long bones, an
involvement of the axial skeleton has also been described. Extraskeletal lesions
are present in more than 50% of the patients and may involve the retroperitoneal
space, lungs, kidneys, brain, retro-orbital space, and heart. This study presents the
case of a patient with Erdheim-Chester disease with vertebral destruction and, for
the first time, to our knowledge, involvement of the liver. The diagnosis is based on
radiologic, histologic, immunohistochemical, and ultrastructural findings.
14586060
A 38-year-old man presented with numerous dermal nodules, similar to xanthoma
disseminatum, that were histologically consistent with his diagnosis of ErdheimChester disease, a non-Langerhans cell histiocytosis. Other cutaneous
manifestations of this disease include eyelid xanthelasma, pretibial dermopathy
and pigmented lesions of the lips and buccal mucosa. The histological diagnosis of
Erdheim-Chester disease was originally made on the patient's retroperitoneal
tissue, obtained at a laparotomy for surgical treatment of a presumed
phaeochromocytoma, and confirmed by the pathognomonic long bone X-ray
findings of this disease.
In this work, we report 2 ECD cases and their respective bone scans showing
typical findings described in the literature. We found bilateral and symmetrical
increased uptake of diaphyses and metaphyses of long bones, mainly in lower
limbs. The mid-diaphyses and the epiphyses (partially in the first case) as well as
the axial skeleton are spared.
12869045
12/2/2015
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12873197
12846951
2003
Apr
8:
Neuroradiology;
45(4):241-5
case report and
review of the
literature.
Weidauer S, von
Stuckrad-Barre
S, Dettmann E,
Zanella FE,
Lanfermann H
2003
9: Clin Exp
Rheumatol;21(2
):232-6
Mossetti G,
Rendina D,
Numis FG,
Somma P,
Postiglione L,
Nunziata V
2003
10: J Cutan Med
Surg;7(2):12932
Biochemical
markers of bone
turnover, serum
levels of
interleukin6/interleukin-6
soluble receptor
and
bisphosphonate
treatment in
Erdheim-Chester
disease.
Erdheim-Chester
disease.
2003
Feb
11: Eur J Intern
Med;14(1):5355
Erdheim-Chester
disease: a rare
cause of
paraplegia.
Curgunlu A,
Karter Y, Oztürk
A
2003
Dec
12: Med Pediatr
Oncol;41(6):575
-7
Erdheim-Chester
disease in a child.
2003
Jul
13:
Rofo;175(7):992
-3
14: Adv Anat
Pathol;10(3):16
0-71
[Erdheim-Chester
disease: radiologic
diagnosis]
Erdheim-Chester
disease: clinical
and pathologic
spectrum of four
cases from the
Arkadi M. Rywlin
slide seminars.
Clerico A, Ragni
G, Cappelli C,
Schiavetti A,
Gonfiantini M,
Uccini S
Niehues SM,
Riechert FC,
Lemke AJ
Bisceglia M,
Cammisa M,
Suster S, Colby
TV
2003
May
Pg 112 of 139
Lenahan SE,
Helm KF,
Hopper KD
Institute of
Neuroradiology,
University of Frankfurt,
Schleusenweg 21660528, Frankfurt,
Germany.
[email protected]
and Experimental
Medicine, Federico II
University Medical
School, Naples, Italy.
[email protected]
Department of
Pathology, The Milton S.
Hershey Medical Center,
Penn State University,
Hershey, Pennsylvania,
USA.
Medicine, Istanbul
University Cerrahpaşa
Medical Faculty,
Istanbul, Turkey
We report on a 44-year-old man with biopsy-proven Erdheim-Chester disease and
slowly progressive cerebellar dysfunction. MRI showed additional symmetrical
hyperintense signal changes in the superior cerebellar peduncle as well as in the
trigonum lemnisci on coronal FLAIR images. The widespread neurological
manifestations of cerebral Erdheim-Chester disease and differential diagnosis are
discussed.
12687308
Erdheim-Chester disease (ECD) is a rare non-Langherans form of histiocytosis
characterized radiologically by symmetrical sclerosis of the metaphysis and the
diaphysis of long tubular bones. Macrophages are potent interleukin-6 (IL-6)
producers and elevated IL-6 serum levels have been described in pathological
conditions characterized by increased bone resorption. In a patient with ECD,
during the acute phase of the disease we found high serum levels of IL-6 and IL-6
soluble receptor (sIL-6R) and high levels of bone turnover markers. After 5 years of
combination therapy with oral prednisone and intravenous clodronate a significant
reduction in the above mentioned biological parameters was seen. We suggest that
the systemic disorders present in ECD could be related to the high serum levels of
IL-6 and sIL-6R. We also propose the use of bisphosphonates in the clinical
management of ECD.
BACKGROUND: Erdheim-Chester disease is a rare non-Langerhans' cell
histiocytosis. OBJECTIVE: This case report is presented to familiarize clinicians
with Erdheim-Chester disease and its differential diagnosis. RESULTS AND
CONCLUSION: Erdheim-Chester disease presents with unique clinical and
pathologic findings. Its xanthoma-like lesions can cause significant morbidity and
mortality.
Until now, only two cases of Erdheim-Chester disease with paraparesis have been
reported. Herein we report the first case of Erdheim-Chester disease with the
clinical manifestation of paraplegia. Our patient also had diabetes insipidus, pleural
and pericardial effusion, retro-orbital and cavernous sinus masses, fibrotic changes
in the retroperitoneal, perirenal, and periaortic areas, and epidural space-occupying
lesions. We want to emphasize that ECD may be a very rare cause of paraplegia.
12747282
Oncology Service,
Pediatric Clinic,
University of Rome "La
Sapienza", Rome, Italy.
12447617
12554012
14595723
12847657
Servizio di Anatomia
Patologica and dagger
Dipartimento di Scienze
Radiologiche, IRCCSOspedale Casa Sollievo
della Sofferenza, San
Giovanni Rotondo (FG),
Italy. [email protected]
12717118
12/2/2015
2003
May
15:
Orthopedics;26(
5):505-8
Erdheim-Chester
disease.
2003
Apr
16: J
Urol;169(4):147
0-1
2003
Mar
17: Ann Rheum
Dis;62(3):271-2
2003
Mar
18: Ann Rheum
Dis;62(3):270
Erdheim-Chester
disease: case
report and review
of associated
urological,
radiological and
histological
features.
Erdheim-Chester
disease with early
onset
atherosclerosis and
a pseudo-malignant
phase.
Erdheim-Chester
disease in Brazil.
2003
Sep
19: Ophthal
Plast Reconstr
Surg;19(5):37281
Orbital
xanthogranuloma:
clinical and
morphologic
features in eight
patients.
2003
Apr
21: J Thorac
Imaging;18(2):1
16-21
Kang EY, Choi
YH, Im JG, Park
CK
2002
Dec
2:
Neuroradiology;
44(12):1004-7
Notes from the
2002 annual
meeting of the
Korean Society of
Thoracic
Radiology.
Spinal dural
involvement in
Erdheim-Chester
disease: MRI
findings.
2002
Sep
3: J Endocrinol
Invest;25(8):727
-9
Erdheim-Chester
syndrome,
presenting as
hypogonadotropic
hypogonadism and
diabetes insipidus.
Pg 113 of 139
Papagelopoulos
PJ, Savvidou
OD, Galanis EC,
Wenger DE,
Inwards CY, Sim
FH
Yun EJ, Yeh BM,
Yabes AP,
Coakley FV,
Kane CJ
First Department of
Orthopedic Surgery,
Athens University
Medical School, Athens,
Greece.
12755215
Deaprtment of Urology,
University of California,
San Francisco Medical
School, USA.
12629387
Neame RL,
Struthers GR
12594120
Lopes Marques
CD, Duarte AL,
Cavalcanti Fd
Fde S
Karcioglu ZA,
Sharara N, Boles
TL, Nasr AM
12594119
Tulane University Health
Sciences Center,
Departments of
Ophthalmology and
Pathology, New
Orleans, Louisiana,
USA.
Department of
Diagnostic Radiology,
Korea University Guro
[email protected]
PURPOSE: To describe the clinical and morphologic features of patients with
orbital xanthogranuloma (XG) with or without Erdheim-Chester disease (E-Cd).
Two patients with E-Cd with involvement of the long bones of the upper and lower
extremities and retroperitoneal region died of kidney failure within approximately 1
year of diagnosis. CONCLUSIONS: Orbital XG is a proliferative lesion of the nonLangerhans histiocytes, which may present as a solitary orbital lesion or may be
associated with a systemic condition known as E-Cd with very poor prognosis.
Albayram S,
Kizilkilic O,
Zulfikar Z, Islak
C, Kocer N
Department of
Radiology, Division of
Neuroradiology, The
Cerrahpasa Medical
School, 34300
Kocamustafapasa,
Istanbul, Turkey.
[email protected]
Khamseh ME,
Mollanai S,
Hashemi F,
Rezaizadeh A,
Azizi F
Endocrine Research
Center, Shaheed
Beheshti University of
Medical Sciences,
Tehran, IR Iran.
There are very few reported cases of Erdheim-Chester disease that document
involvement of dura at the level of the spinal cord. Among these reports, we know
of no publication that includes detailed MRI findings. To the best of our knowledge,
the case presented here is the first published report of this specific manifestation of
Erdheim-Chester disease that includes detailed MRI findings in addition to the
related history. Spinal manifestations of Erdheim-Chester disease in our patient
were at the dorsal and lumbar levels (T1-T6 and T12-T11 respectively). Both
epidural and subdural linear large masses were present, causing spinal cord
compression at the dorsal level and epidural thickening at the lumbar level.
It is still a matter of discussion whether Erdheim-Chester syndrome is a distinct
entity or a type of LCH. The present case is a 46-yr-old man, that presented with
signs and symptoms of diabetes insipidus and hypogonadotropic hypogonadism
simultaneously. X-rays and bone scintigraphy showed typical and pathogonomic
findings of Erdheim-Chester syndrome. Bone biopsy and immunohistochemical
staining strongly support the diagnosis of non-Langerhans cell histiocytosis.
14506422
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12/2/2015
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12240906
2002
Sep
4: J
Neurooncol;59(
2):169-72
Failure of radiation
therapy for brain
involvement in
Erdheim Chester
disease.
Mascalchi M,
Nencini P, Nistri
M, Sarti C,
Santoni R
Dipartimento di
Fisiopatologia Clinica,
Università di Firenze,
Italia.
[email protected]
2002
Aug
5: Am J Med
Sci;324(2):96100
Gupta A, Kelly B,
McGuigan JE
University of Florida
College of Medicine,
Gainesville 32610, USA.
2002
Jun
6: Mod
Pathol;15(6):66
6-72
Erdheim-Chester
disease with
prominent
pericardial
involvement:
clinical, radiologic,
and histologic
findings.
Erdheim-Chester
disease: case
report, PCR-based
analysis of
clonality, and
review of literature.
Al-Quran S,
Reith J, Bradley
J, Rimsza L
2002
7: J Comput
Assist
Tomogr;26(2):2
57-61
MR findings of
Erdheim-Chester
disease.
Gottlieb R, Chen
A
Department of
Pathology, Immunology
and Laboratory
Florida College of
Medicine, Shands
Hospital, Gainesville
32610-0275, USA.
Westlake Diagnostic
Center, Thousand Oaks,
CA, USA.
[email protected]
2002
Feb
8: J
Neurosurg;96(2)
:344-51
Multiple system
Erdheim-Chester
disease with
massive
hypothalamic-sellar
involvement and
hypopituitarism.
Oweity T,
Scheithauer BW,
Ching HS, Lei C,
Wong KP
Department of
Pathology, Normah
Medical Specialist
Center, Kuching,
Sarawak, Malaysia.
2002
9: Clin
Neuropathol;21(
1):24-8
Xanthogranuloma
of the ErdheimChester type within
the sellar region:
case report.
Reithmeier T,
Trost HA, Wolf
S, Stölzle A,
Feiden W,
Lumenta CB
Department of
Neurosurgery, Academic
Hospital Bogenhausen,
Technical University of
Munich, Germany.
Thomas.Reithmeier@we
b.de
Pg 114 of 139
A patient with suprasellar and brain stem involvement in Erdheim Chester disease
(ECD) underwent magnetic resonance (MR) imaging and proton MR spectroscopy
(1H MRS) of the ventral pons before and 1, 4 and 18 months after external wholebrain (24 Gy) radiotherapy. By revealing a decrease of the N-acetylaspartate/choline ratio in the pons, 1H MR spectroscopy anticipated lesions growth
on MR imaging. In line with the results in four patients reported in the literature, our
observation indicates that external radiation therapy is not effective for intracranial
involvement in ECD.
We describe documented skeletal and pericardial involvement by ECD producing
cardiac tamponade in a 30-year-old woman. The patient presented with jaundice
and hepatic congestion produced by cardiac tamponade. Pericardial biopsy
revealed xanthogranulomatous lesions comprised of foamy and lipid-laden
macrophages, multinucleated giant cells, monocytes, and lymphocytes in a mesh
of fibrosis. Immunohistochemical staining was positive for CD68 and negative for
CD1a, consistent with ECD rather than with the much more common Langerhans
cell form of histiocytosis.
We present a case report of ECD in a 35-year-old African-American woman with a
progressive course over 6 years. We investigated the clonality of the histiocytes
using the HUMARA assay on paraffin-embedded tissue sections but did not find
any evidence that these cells represent a monoclonal population. In this report, the
characteristics of ECD are reviewed, the genetic basis of the HUMARA assay is
discussed, and our results in the context of other clonality investigations reported in
the literature to date are summarized.
12241111
Lipoid granulomatosis (Erdheim-Chester disease) is a rare but distinct form of
histiocytosis. This disease has characteristic radiologic findings involving the
musculoskeletal system that are critical to the diagnosis: symmetric sclerosis of the
metaphysis and diaphysis of long bones with relative sparing of the epiphysis as
depicted on conventional radiography. However, it is a systemic disease that
involves multiple organ systems. This pictorial essay is of a single patient imaged
over multiple years, using various pulse sequences with both low and high field
strength MR scanners. It depicts many of the characteristic findings encountered in
this rare systemic disorder.
The authors report a case of ECD in which the diagnosis was made after biopsy of
a hypothalamic mass. The mass had been discovered during a workup for
panhypopituitarism in a 55-year-old man with urological and bone disease. Aside
from diabetes insipidus, other features of pituitary insufficiency have seldom been
reported and no patients have presented with a hypothalamic tumor. The
endocrinological and neurological aspects of ECD are discussed, as is its
differential diagnosis. Reported cases of the disorder associated with
hypopituitarism or found during biopsy of central nervous system structures are
also reviewed.
Manifestations of Erdheim-Chester disease in the central nervous system are very
rare. Cases with localization in the retroorbital space, hypothalamic area and
posterior pituitary as well as intracerebral lesions are known. In our neurosurgical
unit, a 51-year-old male patient with a history of hypophyseal insufficiency and
visual deficits underwent surgery for a pituitary lesion. Histological and
immunohistochemical examination revealed a xanthogranulomatous lesion
composed of very large CD68-positive foam cells with small nuclei and some
Touton-like giant cells, histiocytes, as well as loci with small lymphocytes and
isolated eosinophilic granuolcytes, embedded in fibrotic tissue. Based on these
findings, the histological diagnosis was a xanthogranuloma of the Erdheim-Chester
type.
11884783
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12065781
11838810
11846041
2002
Jan
10: J Fr
Ophtalmol;25(1)
:57-61
2002
Mar
11: Ann Rheum
Dis;61(3):199200
2002
Mar
12: J Bone
Miner
Res;17(3):381-3
2002
Feb
13: AJR Am J
Roentgenol;178
(2):429-32
2002
Aug
14: Exp Clin
Endocrinol
Diabetes;110(5)
:248-52
2001
Dec
1: Am J
Ophthalmol;132
(6):945-7
Pg 115 of 139
[Bilateral
exophthalmos
diabetes insipidus:
Erdheim-Chester
disease. Clinical
and radiological
findings]
Erdheim-Chester
disease: typical
radiological bone
features for a rare
xanthogranulomato
sis.
Imaging of
Erdheim-Chester
disease.
Le Goff L, Berros
P, Denis D,
Ridings B
Service d'Ophtalmologie
de Marseille, CHU
Timone, 264, rue SaintPierre, 13385 Marseille,
France.
The authors report a case of a 61-year-old man presenting bilateral exophthalmos
and diabetes insipidus. A retro-orbital biopsy revealed nonspecific fibrocollagenic
infiltration. The diagnosis of Erdheim-Chester disease was evoked when a
multivisceral affection (retroperitoneal and mediastinal periaortic fibrosis) with
specific bone localization became evident. The histopatholgical study of a bone
biopsy showed xanthogranulomatous infiltration. The patient died a few months
later of an intercurrent infection.
11965120
Breuil V, Brocq
O, Pellegrino C,
Grimaud A,
Euller-Ziegler L
Rheumatology
Department, l'Archet
University, 06200 Nice,
France.
11830422
Olmos JM,
Canga A, Velero
C, GonzálezMacías J
11874230
Erdheim-Chester
disease: a unique
presentation with
multiple osteolytic
lesions of the spine
and pelvis that
spared the
appendicular
skeleton.
Psychoneuroendoc
rine disturbances in
a patient with a rare
granulomatous
disease.
Klieger MR,
Schultz E,
Elkowitz DE,
Arlen M, Hajdu
SI
Department de Medicina
Interna, Hospital
Marqués de Valdecilla,
Universidad de
Cantabria, Santander,
Spain.
Department of
Radiology, North Shore
University Hospital, 300
Community Dr.,
Manhasset, NY 11030,
USA.
Perras B,
Petersen D,
Lorch H, Fehm
HL
Medicine I, Universität
zu Lübeck, Ratzeburger
Allee, Germany.
[email protected]
Interferon therapy
for orbital infiltration
secondary to
Erdheim-Chester
disease.
Esmaeli B,
Ahmadi A, Tang
R, Schiffman J,
Kurzrock R
Ophthalmology Section,
Department of Plastic
Surgery, The University
of Texas M.D. Anderson
Cancer Center, 1515
Holcombe Blvd.,
Houston, TX 77030,
USA.
besmaeli@mdanderson.
org
11804910
We report on a patient with the clinical diagnosis of ECD displaying endocrine and
cerebral manifestations and skeletal, pulmonary and soft tissue involvement.
Disturbance of the endocrine system was revealed by enlargement of the pituitary,
partial deficiency of growth hormone (GH), hyperprolactinemia and testosterone
deficiency. Cerebral involvement included sinus vein thrombosis, pathologic
acoustic evoked potentials, persistence of gadolinium enhancement after magnetic
resonance imaging and hypomania. These findings emphasize the importance to
assess endocrine and cerebral function in patients with rare granulomatous
diseases like ECD and multiorgan involvement.
PURPOSE: To describe a 55-year-old male with Erdheim-Chester disease with
bilateral orbital infiltration and visual loss who was successfully treated with
interferon-alpha. METHODS: Interventional case report. RESULTS: The patient
was treated with interferon-alpha and had an improvement in his clinical signs,
including his visual acuity, after 4 weeks of interferon therapy. CONCLUSION:
Interferon-alpha can be effective in the treatment of orbital infiltration secondary to
12/2/2015
12148090
11730673
2001
Dec
2: Ann
Pathol;21(6):52
9-33
[Erdheim-Chester
disease. Apropos
of a case with
autopsy findings]
Ranty ML, Le
Pessot F,
Billerey C,
Dominique S,
Métayer J
Laboratoire d'Anatomie
et de Cytologie
Pathologiques, CHU
Charles Nicolle,
Boulevard Gambetta,
76031 Rouen.
2001
Sep
3: Yan Ke Xue
Bao;17(3):163-7
with bilateral orbital
involvement.
Wu Z, Yan J,
Hong W, Yuan
Y, Dai L
Zhongshan Ophthalmic
Center, Sun Yat-sen
Sciences, Guangzhou,
510060 China.
2001
4: Am J
Nephrol;21(4):3
15-7
Two enlarged
kidneys: a
manifestation of
Erdheim-Chester
disease.
Medicine, Groupe
Hospitalier SaintJacques, ClermontFerrand, France.
2001
Jul
5: Cesk
Patol;37(3):1147
[Severe pulmonary
involvement in
Erdheim-Chester
disease (case
report)]
André M,
Delèvaux I, de
Fraissinette B,
Ponsonnaille J,
Costes Chalret
N, Wechsler B,
Piette JC,
Aumaître O
Z Kinkor
2001
Jun
6: Clin
Radiol;56(6):48
1-4
Erdheim-chester
disease.
Murray D,
Marshall M,
England E,
Mander J,
Chakera TM
Department of
Royal Perth Hospital,
Perth, WA, Australia.
2001
Jun
7:
Hautarzt;52(6):5
10-7
[Skin
manifestations of
Erdheim-Chester
disease. Case
report and review
of the literature]
Watermann DF,
Kiesewetter F,
Frosch PJ
Hautklinik der
Städtischen Kliniken
Dortmund und Lehrstuhl
für Dermatologie der
Universität
Witten/Herdecke.
Pg 116 of 139
Oddĕlení patologie
Fakultní nemocnice Na
Bulovce, Praha.
Erdheim-Chester's Disease is a very uncommon variety of non-Langerhans
histiocytosis of unknown etiology, which characteristically affects long bones
bilaterally and symmetrically in adults. It may be accompanied by visceral foci of
variable localization and extension determining prognosis. Bone scintigraphy is
characteristic enough to evoke the disease but histologic examination of a
peripheral specimen is required to confirm the diagnosis: spumous histiocytes
CD68+, PS100+/-, CD1a-. We describe a case revealed by a severe lung disease
with detailed autopsy.
A 43-year-old female with bilateral proptosis was presented. CT demonstrated
bilateral, diffuse orbital mass. Histopathologic assessment revealed a diffuse
xanthogranulomatous process with clusters of lipidladen histocytes. Numerous
Touton giant cells were scattered throughout the lesion. Renal and heart failure
happened during a 6-year follow-up period. Long bones roentgenogram
demonstrated diffuse symmetrical sclerosis with extensive, lytic lesions. Systemic
administration of corticosteroids, chemotherapy, immunoglobulin and traditional
Chinese medicine showed good therapeutic result. CONCLUSIONS: An
administration of systemic corticosteroids, chemotherapy, immunoglobin and
traditional Chinese medicine can control Erdheim-Chester disease. Further
exploration of its pathogenesis and collection of useful clinical data are required.
We describe the case of a patient with a pleural and pericardial effusion leading to
tamponade. Pathological examination of pericardium and mediastinal adenopathy
was normal. The abdominal computed tomography scan showed two enlarged
kidneys suggestive of Erdheim-Chester disease. Bone scan scintigraphy
demonstrated symmetrical increased labeling of the long bones. The biopsy of
perirenal soft tissue confirmed the diagnosis of Erdheim-Chester disease.
11910940
Presented is a typical case of Erdheim-Chester disease (ECD) wherein the severe
pulmonary manifestation led to an open lung biopsy and eventual morphologic
recognition of the nonspecific clinical symptoms. The pulmonary involvement is
described in almost 20% of cases and is prognostically unfavourable. About 20
cases of Erdheim-Chester disease were published and more than half of them had
lethal outcome. The ECD affecting seriously lungs appears as non-specific
interstitial lung disease and usually does not enter the broad clinical differential
diagnosis. A detailed bibliography with special attention to the pulmonary
involvement by this enigmatic disease is presented.
We describe two confirmed cases of ECD, both of which demonstrate nonmalignant retroperitoneal and peri-renal infiltration causing dilatation of the upper
renal tracts. The cases are illustrated with contrast studies, computed tomography
(CT) and magnetic resonance imaging (MRI). Typical sclerosis of the long bones
was apparent on radiography. Both cases have been treated conservatively to
date.A brief review of the literature regarding the manifestations of ECD is
included. In cases of non-malignant retroperitoneal infiltration, ECD should be
considered as a diagnosis and radiographs of the long bones performed.
A 46 year old woman suffering from Erdheim-Chester disease is Histologically the
skin manifestations were also a sign of the basic disease which had spread to
various organsFurther localizations of Erdheim-Chester disease were found in the
femurs, tibiae and mandibula as well as in the right breast, retroorbital region and
abdominal aorta. Infiltration of the retroperitoneal cavity led to urinary retention and
nephrectomy. With systemic corticosteroid therapy, the skin lesions on the flanks
regressed but recurred after discontinuance of the drug.
11669020
12/2/2015
12567744
11509804
11428798
11428080
2001
Jun
8:
Nervenarzt;72(6
):449-52
[Cerebellar
syndrome,
exophthalmos and
secondary
hypogonadism in
Erdheim-Chester
disease]
Grothe C,
Urbach H, Bös
M, Ko Y,
Schröder R
Neurologische
Universitätsklinik Bonn,
Sigmund Freud Strasse
25, 53105 Bonn.
[email protected]
2001
May
9: J
Radiol;82(5):58
0-2
[Retroperitoneal
complications of
Erdheim-Chester
disease]
2001
Apr
10: Monaldi
Arch Chest
Dis;56(2):115-7
Erdheim-Chester
disease. A case
report.
Leluc O, André
M, Marciano S,
Lafforgue P,
Rossi D, Bartoli
J
Vasáková M,
Fiala P, Kinkor Z
Service de radiologie,
Hôpital Salvator, 270,
boulevard Sainte
Marguerite, 13009
Marseille.
Institute of Tuberculosis
and Respiratory
Diseases, Thomayer
Faculty Hospital,
Prague, Czech
Republic.
[email protected]
2001
Jan
11: Am J Med
Sci;321(1):6675
Erdheim-Chester
disease: a rare
multisystem
histiocytic disorder
associated with
interstitial lung
disease.
Shamburek RD,
Brewer HB,
Gochuico BR
Molecular Disease
Branch, National Heart,
Lung, and Blood
Institute, National
Institutes of Health,
Bethesda, Maryland
20892-1666, USA.
[email protected]
Pg 117 of 139
We present a 50-year-old patient with a slowly progressive cerebellar syndrome,
left-sided exophthalmos, secondary hypogonadism, and multiple pleomorphous
skin alterations. The diagnosis of Erdheim-Chester disease was established by the
radiological detection of a left-sided retrobulbar space-occupying mass, a
hypophysial stalk lesion, alterations in both cerebellar hemispheres, retroperitoneal
imbibition, osteolytic/osteosclerotic changes in the metaphysis and diaphysis of the
long bones, and a skin biopsy with histological detection of a non-Langerhans-cell
histiocytosis.
Retroperitoneal involvement manifests as a mass associated with fibrosis, which is
well visualized on CT scan and MRI. This disease is characterized by its potential
to involve the whole retroperitoneum. We report a case of this disease that
developed over twenty years, consisting of renal arteries stenosis, bilateral ureteral
stenosis and evolutive adhesive capsulitis.
A 63-year old man had a history of diabetes insipidus, arthralgias and myalgias,
weight loss, relapsing fever and malaise. Increased uptake of Tc-99m was found
predominantly in distal antebrachia, in distal femurs and in both trochanters and
tibias on the bone scintigraphy. The chest radiograph showed reticulonodular
pattern and the high resolution computed tomography (HRCT) scans revealed
diffuse infiltrative lung disease with small multiple nodules and widening of
interlobular septs. Videothoracoscopic lung biopsy and biopsy of tibial lesion were
perfomed. The histopathologic examination proved non-Langerhans cell
histiocytosis-Erdheim-Chester disease. Treatment with prednisone reduced the
pain and fever and improved the vital capacity of the lungs while the changes in the
lungs and bones remained unchanged.
Erdheim-Chester disease (ECD) is a rare multisystem histiocytosis syndrome of
unknown cause that usually affects adults. Histiocytic infiltration of multiple end
organs produces bone pain, xanthelasma and xanthoma, exophthalmos, diabetes
insipidus, and interstitial lung disease. Differential diagnosis includes Langerhans
cell histiocytosis, metabolic disorders, malignancy, and sarcoidosis. ECD can be
diagnosed using a combination of clinical and histopathologic findings. Sites of
involvement include lung, bone, skin, retroorbital tissue, central nervous system,
pituitary gland, retroperitoneum, and pericardium. Symmetrical long bone pain with
associated osteosclerotic lesions, xanthomas around the eyelids, exophthalmos,
and/or diabetes insipidus suggest ECD. Approximately 35% of patients have
associated lung involvement, characterized by interstitial accumulations of
histiocytic cells and fibrosis in a predominantly perilymphangitic and subpleural
pattern. This pattern distinguishes ECD from other histiocytic disorders involving
the lung. The diagnosis is confirmed by tissue biopsies that contain histiocytes with
non-Langerhans cell features. In general, the clinical course of patients with this
disease varies, and the prognosis can be poor despite treatment. Clinical trials for
treatment of ECD have not been conducted and treatment is based on anecdotal
experience.
12/2/2015
11433705
11416797
11499297
11202482
2001
Jan
12: Int J Surg
Pathol;9(1):73-9
Erdheim-Chester
disease with
extensive marrow
necrosis: a case
review.
Kim NR, Ko YH,
Choe YH, Lee
HG, Huh B, Ahn
GH
Department of
Diagnostic Pathology,
Sungkyunkwan
Medicine, Samsung
Medical Center, Seoul,
Korea.
2001
13:
Rontgenpraxis;5
4(4):148-51
[Involvement of the
facial skull in
Erdheim-Chester
disease]
Kirchner TH,
Seipelt G, Vogl
TJ
Institut für Diagnostische
und Interventionelle
Radiologie, Johann
Wolfgang GoetheUniversität Frankfurt a.
M.
2001
Dec
14: Am J
Med;111(8):672
-3
Cardiac tumor due
to Erdheim-Chester
disease.
2001
Nov
15: Ann Intern
Med;135(9):844
-5
2001
16: Radiol Med
(Torino);102(12):91-3
2001
Jun
17: J Assoc
Physicians
India;49:671-3
Treatment of
refractory ErdheimChester disease
with double
autologous
hematopoietic
stem-cell
transplantation.
[A case of ChesterErdheim disease
with unusual bone
involvement]
Erdheim-Chester
disease.
Ammann P,
Bösch B,
Buchholz S,
Genoni M,
Laube I, Naegeli
B
Boissel N,
Wechsler B,
Leblond V
2001
May
18: AJR Am J
Roentgenol;176
(5):1330-1
Pg 118 of 139
Erdheim-Chester
disease of the
retroperitoneum: a
rare cause of
ureteral
obstruction.
Dimonte M,
Minonne A
Sood A, Jain R,
Kumar R,
Malhotra R,
Chopra P
Fortman BJ,
Beall DP
We report a case of Erdheim-Chester disease with diffuse necrosis leading to
difficulty in making a prompt diagnosis. Radiologically, osteosclerotic lesions with
osteolytic element involved metadiaphyses of both proximal tibia, and
retroperitoneal infiltrations encasing both kidneys, both adrenals, and aorta were
found. A biopsy of the tibia showed diffuse infiltration of foamy histiocytes, Toutontype giant cells, and fibroblastic cells associated with extensive coagulative
necrosis. Immunohistochemically, foamy histiocytes were positive for CD68 and
peanut agglutinin and negative for S-100 protein. A few Langerhans' cells, which
were difficult to identify in hematoxylin-eosin stain, were highlighted by
immunostain for S-100 protein. The patient received supportive therapy and was
alive 1 1/2 years after diagnosis, with newly developed bilateral retrobulbar lesions
and worsened heart failure.
We report on a patient suffering from Erdheim-Chester-disease (ECD). ECD
represents a very rare entity with lipogranulomatosis of mesenchymal origin. The
most common radiological manifestation is the involvement of the long bones of the
extremities. Here we find sclerosis of the spongiosa combined with a thinning of
cortical structures. This often results in a small crack of hyperlucency between
corticals and spongiosa. Our case demonstrates an involvement of the craniofacial
part of the skull showing sclerosis of the upper jaw bone. This manifestation has
not yet been reported in the literature.
11469352
11883118
11755517
11694122
Servizio di Radiologia,
A.O. Cardinale Giovanni
Panico, Tricase, Lecce,
Italy.
Department of
Endocrinology and
Metabolism, All India
Institute of Medical
Sciences, New Delhi.
The Johns Hopkins
Hospital, Baltimore, MD
21286, USA.
11677449
11584952
11312207
12/2/2015
2001
Oct
19: Br J
Ophthalmol;85(
10):1220-4
A role for
methotrexate in the
management of
non-infectious
orbital inflammatory
disease.
Smith JR,
Rosenbaum JT
Casey Eye Institute,
Oregon Health Sciences
University, Portland,
Oregon 97201-4197,
USA.
[email protected]
2001
Oct
20: J Clin
Endocrinol
Metab;86(10):4
603-10
Extensive
inflammatory
pseudotumor of the
pituitary.
Hansen I,
Petrossians P,
Thiry A, Flandroy
P, Gaillard RC,
Kovacs K, Claes
F, Stevenaert A,
Piguet P,
Beckers A
Department of
Neurology, University of
Liege, B 4000 Liege,
Belgium.
2000
Sep
1: Oral Surg
Oral Med Oral
Pathol Oral
Radiol
Endod;90(3):38
9-98
Erdheim-Chester
disease of the jaws:
literature review
and case report.
Petrikowski CG,
McGaw WT
Faculty of Dentistry,
University of Toronto,
Ontario, Canada.
grace.petrikowski@utoro
nto.ca
2000
Aug
2: Eye;14 ( Pt
4):606-12
Erdheim-Chester
disease: two cases
of orbital
involvement.
Sheidow TG,
Nicolle DA,
Heathcote JG
Department of
Ophthalmology,
University of Western
Ontario, London,
Canada.
[email protected]
2000
Jul
3: Mod
Pathol;13(7):74
7-54
Pulmonary
pathology of
Erdheim-Chester
disease.
Rush WL,
Andriko JA,
Galateau-Salle
F, Brambilla E,
Brambilla C,
Ziany-bey I,
Rosado-deChristenson ML,
Travis WD
Department of
Dermatopathology,
Armed Forces Institute
of Pathology,
Washington, DC 203066000, USA.
Pg 119 of 139
AIM: To evaluate the clinical usefulness of methotrexate for patients with noninfectious orbital inflammatory disease who fail to respond to systemic
corticosteroids and/or orbital irradiation. METHODS: The medical records of
patients with non-infectious orbital inflammatory disease who were treated with
methotrexate at Oregon Health Sciences University were examined. Methotrexate
was administered at a median maximum dose of 20 mg per week (range 15-25 mg
per week) in conjunction with folate supplementation. The study cohort included 14
patients (24 eyes) with diagnoses including non-specific orbital inflammation (n=7),
Tolosa-Hunt syndrome (n=1), thyroid orbitopathy (n=3), Wegener's granulomatosis
(n=1), sarcoidosis (n=1), and Erdheim-Chester disease (n=1). In all cases,
methotrexate was commenced as a corticosteroid sparing agent. 10 patients (71%)
completed a 4 month therapeutic trial of methotrexate. Median duration of
treatment for the nine (64%) patients who experienced clinical benefit was 25
months (range 10-47 months). Six responders were ultimately able to cease
methotrexate, including the single patient who required concurrent long term
corticosteroid therapy. Complications included fatigue, gastrointestinal disturbance,
hair thinning and mild, reversible serum liver enzyme elevation. Two patients (14%)
discontinued treatment because of adverse effects. CONCLUSION: Methotrexate
is a well tolerated immunosuppressive medication which may benefit patients with
recalcitrant non-infectious orbital inflammatory disease.
A 40-yr-old female presented with an extensive lesion of the sellar area and the
sphenoid sinus, spreading to the optic nerves and associated with pachymeningitis.
Histological findings were consistent with an inflammatory pseudotumor, and
steroid treatment allowed the disappearance of all the lesions. Inflammatory
pseudotumors of the pituitary are very rare. This case appears unique with regard
to the extension of the lesions and the dramatic response to medical treatment.
The differential diagnosis of inflammatory lesions of the pituitary is difficult. It relies
mainly on histological analysis and includes sarcoidosis, Wegener's
granulomatosis, histiocytosis (Langerhans, Rosai-Dorfman, and Erdheim-Chester
diseases) and lymphocytic hypophysitis.
Erdheim-Chester disease is a rare systemic lipogranulomatous disorder of adults
that shares some histopathologic features similar to Langerhans' cell histiocytosis
and that results in characteristic radiographic changes in the long bones. Relatively
few cases have been reported in the jaws. We present a literature review of jaw
cases and the first case report to describe detailed radiographic and pathologic
features of jaw involvement, as well as clinical, radiographic, and histopathologic
follow-up of the untreated jaw lesions.
We describe two patients, one presenting with diabetes insipidus and subsequently
developing orbital pseudotumours and retroperitoneal fibrosis, the other presenting
with exophthalmos and diplopia. The first patient was treated with cladribine and
subsequently developed sudden onset of bilateral blindness while the second
required radiation therapy for the retro-orbital process and developed radiation
retinopathy. These cases typify the variable presentation and course in patients
with ECD.
The clinical, radiologic, and pathologic features of six patients with ECD with lung
involvement are presented. The patients were three men and three women (mean
age, 57). Five presented with progressive dyspnea, and one presented with
diabetes insipidus. Open-lung biopsies showed histiocytic infiltrates in a
lymphangitic pattern with associated fibrosis and lymphoplasmacytic inflammatory
infiltrates. Clinical follow-up of up to 16 years was available. At the end of that time,
five patients were dead of complications related to their disease; one patient
remains alive 4 years after diagnosis but with severe respiratory compromise.
12/2/2015
11567968
11600510
10982964
11040908
10912934
2000
Jun
4: Clin Nucl
Med;25(6):41420
The role of bone
scintigraphy in
patients with
Erdheim-Chester
disease.
Gotthardt M,
Welcke U,
Brandt D,
Tontsch D, Barth
PJ, Schaefer J,
Hoeffken H,
Joseph K
Nuclear Medicine,
Philipps-University of
Marburg, Germany.
[email protected]
2000
Jun
5: Hum
Pathol;31(6):73
4-9
Kenn W, Eck M,
Allolio B, Jakob
F, Illg A, Marx A,
MuellerHermelink HK,
Hahn D
Department of
Wurzburg, Germany.
2000
Jun
6: J
Rheumatol;27(6
):1550-3
Erdheim-Chester
disease: evidence
for a disease entity
different from
Langerhans cell
histiocytosis?
Three cases with
detailed
radiological and
immunohistochemi
cal analysis.
"Coated aorta": a
new sign of
Erdheim-Chester
disease.
2000
May
7: AJR Am J
Roentgenol;174
(5):1327-31
Serratrice J,
Granel B, De
Roux C,
Pellissier JF,
Swiader L,
Bartoli JM,
Disdier P,
Weiller PJ
Wittenberg KH,
Swensen SJ,
Myers JL
Pg 120 of 139
Pulmonary
involvement with
Erdheim-Chester
disease:
radiographic and
CT findings.
Erdheim-Chester disease (ECD) is a rare disorder that has been reported fewer
than 60 times in the literature. Although clinical findings seem to be specific at first
sight, histologic classification remains unclear. It has not been decided whether
ECD is part of the spectrum of histiocytoses or whether it may be a lipid storage
disorder or even a primary macrophage cell disorder, although it does show a
distinct histologic pattern. However, the clinical appearance alone shows several
typical features, rendering the diagnosis very probable if present. This article
illustrates the importance of bone scanning in ECD, because the scintigraphic
pattern of involved skeletal sites may in themselves lead to the diagnosis. Several
differential diagnoses are considered. The importance of bone scintigraphy as an
imaging method in patients with an unclear diagnosis is discussed, as exemplary in
ECD, as is its role for the detection of sites of skeletal involvement in other
diseases.
In this study, 3 cases of Erdheim-Chester disease were followed up over years and
examined in detail both radiologically and immunohistochemically. All 3 cases
showed the pathognomonic skeletal features for EC disease as well as an identical
immunohistochemical phenotype quite different from LCH. Macrophages and
Touton cells reacted strongly positive with the histiocytic marker CD 68, whereas
staining with S100 and CD1a, markers for Langerhans cells, were negative. Both
the immunohistochemical phenotype and the bone changes were clearly distinct
from LCH.
10836686
Interne, Hôpital de la
Timone, Marseille,
France.
We describe 3 unusual cases of Erdheim-Chester disease with periaortic fibrosis
involving the whole aorta and leading to a "coated aorta" appearance on computed
tomography scans. Faced with such a singular "coated aorta," bone scintigraphy
can be very helpful when searching for Erdheim-Chester disease.
10852289
Department of
Mayo Clinic, Rochester,
MN 55905, USA.
We retrospectively reviewed the radiologic images of 15 patients with biopsyproven Erdheim-Chester disease. Nine patients had chest radiographic images and
CT scans that were available for review. Six men and three women were studied
(age range, 25-70 years; mean age, 56 years). CONCLUSION: The most common
findings of Erdheim-Chester disease with pulmonary involvement include an
interstitial process characterized by smooth interlobular septal thickening and
centrilobular nodular opacities, fissural thickening, and pleural effusions. On CT, six
of nine patients had pericardial fluid and thickening or extrathoracic soft-tissue
masses. Such findings are characteristic of Erdheim-Chester disease with
pulmonary involvement. Definitive diagnosis requires correlating skeletal findings
and lung biopsy findings.
10789787
12/2/2015
10872668
2000
May
8: Nihon
Kokyuki Gakkai
Zasshi;38(5):38
0-4
[Erdheim-Chester
disease presenting
with pulmonary
lesion]
Nakano H, Yano
S, Kobayashi K,
Kawasaki Y,
Mikami M,
Shishido S,
Fukuda M,
Kawabata Y
Department of
Matsue Hospital,
Shimane, Japan.
2000
Apr
9: Skeletal
Radiol;29(4):22
7-30
Erdheim-Chester
disease with
intramuscular
lipogranuloma.
Yamamoto T,
Mizuno K
Department of
Kobe University School
of Medicine, Japan.
2000
10: J Comput
Assist
Tomogr;24(2):2
81-3
Ferrozzi F, Bova
D, Tognini G,
Zuccoli G
Istituto di Scienze
Radiologiche, Università
degli Studi, Parma, Italy.
2000
11: Arch Orthop
Trauma
Surg;120(12):112-3
Pseudotumoral
bilateral
involvement of the
breast in ErdheimChester disease:
CT appearance.
Erdheim Chester
disease: a rare
cause of knee and
leg pain.
Sistermann R,
Katthagen BD
Orthopädische Klinik,
Städtische Kliniken
Dortmund, Klinikzentrum
Mitte, Germany. [email protected]
2000
Oct
12:
Nephron;86(2):1
95-6
Enríquez R,
Cabezuelo JB,
Martínez M,
Sáez J, Sirvent
AE, Amorós F,
Reyes A
11014995
2000
Aug
13:
Neuroradiology;
42(8):625
Nephrotic
syndrome and
amyloid A
amyloidosis in a
patient with
Erdheim-Chester
disease.
Erdheim-Chester
disease: a
sinonasal lesion
mimicking
rhinoscleroma.
Marsot-Dupuch
K, Le Hir P
10997572
Pg 121 of 139
A 49-year-old man first visited our hospital in 1991 for further examination of
abnormal pulmonary shadows. A chest radiograph and computed tomographic
(CT) scan showed diffuse reticular shadows in both lung fields. The findings from a
transbronchial lung biopsy specimen were not conclusive. Although there was little
change in the abnormal pulmonary shadows, the patient's lung functions gradually
deteriorated, indicating an obstructive defect. The patient was admitted in 1998
with the chief complaint of increasing dyspnea on exertion. A thoracoscopic lung
biopsy specimen revealed proliferation of histiocytes with fibrosis in the pleura and
perivascular interstitium. Immunohistochemically, the histiocytic cells were CD68positive, alpha 1-antichymotripsin-positive, S100 protein-negative, and CD1anegative. A bone scintigram and magnetic resonance images showed symmetrical
diametaphyseal bone lesions in the distal femurs and the proximal tibiae; however,
the epiphyses were spared. These findings were consistent with Erdheim-Chester
disease. This is the first reported case of Erdheim-Chester disease with pulmonary
involvement in Japan.
We report on a rare manifestation of Erdheim-Chester disease with intramuscular
lipogranuloma. The patient was a 66-year-old man who noted a soft tissue mass in
the right quadriceps femoris muscle. Radiographs revealed symmetrical
osteosclerosis in the diametaphysis of both femora and tibiae. An open biopsy
revealed a proliferation of lipid-laden histiocytes in the femoral bone marrow and
the quadriceps femoris muscle. To our knowledge, this is the second case of
Erdheim-Chester disease involving muscle.
We report a case of pseudotumoral involvement of the breast in Erdheim-Chester
disease. CT shows an enlargement of both breasts with inhomogeneous structure,
microcalcifications, and foci of fatty density.
10921285
A case of Erdheim Chester disease in a 51-year-old Turkish patient is described.
Erdheim Chester disease is a rare form of lipoid granulomatosis. Knee and leg pain
are the most common symptoms, and physicians working in orthopaedics and
traumatology are the first to be consulted. Our patient demonstrated a typical
bilateral, symmetric sclerosis of the metaphyseal region of long bones of the lower
extremity, histologic examination revealed foamy, lipid-loaded histiocytes. The
patient also suffered from arterial hypertension, diabetes insipidus and
exophthalmos of the left eye. The diagnosis was confirmed by a bone biopsy, and
the patient was treated with non-steroidal anti-inflammatory drugs, corticosteroids
and vincristine.
10653118
12/2/2015
10855472
10752893
2000
Aug
14:
Nuklearmedizin;
39(5):N72-3
2000
Mar
15: AJR Am J
Roentgenol;174
(3):875-6
2000
16: Eur
Neurol;43(4):24
2-4
2000
17: Clin
Imaging;24(2):6
4-7
2000
Jan
18: Joint Bone
Spine;67(1):714
Pg 122 of 139
Epiphyseal
involvement in
Erdheim-Chester
disease:
radiographic and
scintigraphic
findings in a case
with lytic lesions.
Erdheim-Chester
disease involving
bilateral lower
extremities: MR
features.
Erdheim-Chester
disease with spinal
cord
manifestations.
Perinephric
xanthogranulomato
sis: CT diagnosis
and confirmation by
CT-guided
percutaneous
biopsy.
Intraosseous
xanthoma without
lipid disorders.
Case-report and
literature review.
Ruíz-Hernández
G, TajahuerceRomera GM,
Latorre-Ibáñez
MD, Vila-Fayos
V, Lara-Pomares
A
Nuclear, Hospital
Provincial Castellon,
Spain.
10984893
Kushihashi T,
Munechika H,
Sekimizu M,
Fujimaki E
Showa University,
School of Medicine,
Tokyo, Japan.
10701649
Pego-Reigosa R,
BrañasFernández F,
MartínezVázquez F,
Rivas-Bande MJ,
Sanjuanbenito L,
GarcíaVillanueva M,
Cortés-Laíño JA
Scheer M, Hon
M, Fruauff AA,
Blumenfeld W,
Grossman ZD,
Katz DS
Neurology Department,
Hospital Xeral-Calde,
Lugo, Spain.
[email protected]
10828658
Department of
Radiology, WinthropUniversity Hospital, 259
First Street, Mineola, NY
11501, USA.
Xanthogranulomatosis is an idiopathic, rare process in which lipid-laden histiocytes
may deposit in various locations in the body, which if systemic is called ErdheimChester disease. A rare case of isolated retroperitoneal, bilateral perinephric
xanthogranulomatosis is reported. The diagnosis was suspected on cross-sectional
imaging and was confirmed by CT-guided percutaneous core biopsy.
11124472
Boisgard S,
Bringer O,
Aufauvre B,
Joudet T,
Kemeny JL,
Michel JL, Levai
JP
Department of
Orthopedic Surgery,
hôpital G. Montpied,
CHU Clermont-Ferrand,
France.
A case of intraosseous xanthoma in a patient with a normal lipid profile is reported.
Hyperlipidemia is present in most patients with xanthomas. Intraosseous
xanthomas are rare, particularly in normolipidemic patients, in whom the presenting
symptom is pain without skin lesions. A lytic lesion with a rim of sclerosis is seen on
radiographs. Histology shows foam cells, giant cells, and fibrosis. Intraosseous
xanthoma is a benign tumor, and other diagnoses must be ruled out (histiocytosis
X, Erdheim Chester disease, clear cell carcinoma metastasis). Surgical excision of
the lesion is the elective treatment.
10773972
12/2/2015
1999
Sep
1: Hum
Pathol;30(9):10
93-6
Chester-Erdheim
disease: a
neoplastic disorder.
Chetritt J,
Paradis V,
Dargere D, AdleBiassette H,
Maurage CA,
Mussini JM, Vital
A, Wechsler J,
Bedossa P
Department of
Pathology, Hospital de
Bicêtre, France.
1999
Aug
2: Neth J
Med;55(2):76-9
A patient with
diabetes insipidus
and periorbital
swellings; ErdheimChester disease.
van der Lee I,
Slee PH, Elbers
JR
Medicine, St. Antonius
Hospital, CM
Nieuwegein, The
Netherlands.
1999
Jun
3: J Korean Med
Sci;14(3):323-6
Erdheim-Chester
disease: a case
report.
Park YK, Ryu
KN, Huh B, Kim
JD
Department of
Pathology, College of
Medicine, Kyung Hee
University, Seoul, Korea.
[email protected]
1999
Jun
4:
Orbit;18(2):99104
Erdheim-Chester
disease: a bilateral
orbital mass as an
indication of
systemic disease.
Amrith S, Hong
Low C, Cheah E,
Oo Tan Y
Consultant
Ophthalmologists,
Mount Elizabeth Medical
Center, Singapore
Pg 123 of 139
Chester-Erdheim disease is a rare non-langerhans cell histiocytosis characterized
by a xanthomatous infiltration of foamy macrophages. The cause and pathogenesis
remain unclear. The aim of the present study was to determine whether ChesterErdheim disease is a polyclonal reactive disease or a clonal neoplastic disorder.
The clonal status of samples obtained from five patients with Chester-Erdheim
disease was studied. DNA was extracted from fixed and paraffin-embedded
sections after microdissection and clonal status was studied using the
Xchromosome inactivation pattern of the human androgen receptor gene
(HUMARA assay). One patient was homozygous for the HUMARA gene and
noninformative. Three other cases were monoclonal. One was polyclonal, and this
case showed a dense reactive infiltrate in association with spumous macrophages.
This study suggests strongly that Chester-Erdheim disease is a monoclonal lesion
consistent with neoplastic disorder. Thus, Chester-Erdheim disease may be
considered as the "macrophage" counterpart of Langerhan's cell histiocytosis in the
histiocytosis spectrum. Further studies are needed to establish the origin of this
clonal proliferation.
Erdheim-Chester disease is a rare multisystem disease in which a progressive
xanthogranulomatous infiltration of several tissues can be seen. We describe a
woman, known to have diabetes insipidus for ten years, with periorbital,
retroperitoneal, mediastinal, axillar and inguinal involvement. On histological
examination a granulomatous infiltration of fatty tissue and striated muscle was
seen, consisting of Touton giant cells, histiocytes with foamy cytoplasm and
lymphocytes. Immunohistochemical staining with CD-1a and S-100 was negative
and on electron microscopy no Langerhans granules were seen. These findings led
to the diagnosis of Erdheim-Chester disease. She had a good response on
steroids. Because of some similar clinical features of Langerhans cell histiocytosis
and Erdheim-Chester disease, a histiocyte disorder seems the most probable
cause.
A 42-year-old man with Erdheim-Chester disease (EC) is presented. This is the first
case of this disease reported in Korea. The patient complained of knee pain and
plain roentgenogram of the bilateral legs revealed diffusely increased density,
coarsened trabecular pattern, and cortical thickening in the diaphysis, and
metaphysis as well as epiphysis. Magnetic resonance imaging revealed that the
lesions showed low signal intensity on T1-weighted images and heterogeneously
low and high signal intensity on T2-weighted images. Histological examination of
the biopsy specimen showed a xanthogranulomatous lesion consisting
aggregations of foamy histiocytes and Touton-type giant cells.
Immunohistochemical staining showed positive reaction to anti-S-100 and
lysozyme in the cytoplasm of the giant cells.
A case of bilateral orbital mass and xanthelasma of the eyelids is presented.
Histology confirmed it to be a form of histiocytosis, possibly an Erdheim-Chester
disease. This was further confirmed by the presence of a retroperitoneal mass and
hydronephrosis, which resolved with treatment. A review of the literature on and
pathological features of this rare fatal disease is presented.
12/2/2015
10492045
10474276
10402177
12045992
1999
Apr
5: Presse
Med;28(14):738
-40
[Urinary
complications of
Erdheim-Chester
disease]
Karsenty G,
André M, Rossi
D
Service d'Urologie,
hôpital Salvator,
Marseille.
1999
Apr
6: Clin Nucl
Med;24(4):2525
Determination of
extent and activity
with radionuclide
imaging in
Erdheim-Chester
disease.
Franzius C,
Sciuk J, Bremer
C, Kempkes M,
Schober O
Medicine, University
Hospital, Westfälische
Wilhelms-Universität,
Münster, Germany.
1999
Jan
7: Am J Surg
Pathol;23(1):1726
Erdheim-Chester
disease: clinical,
radiologic, and
histopathologic
findings in five
patients with
interstitial lung
disease.
Egan AJ,
Boardman LA,
Tazelaar HD,
Swensen SJ,
Jett JR, Yousem
SA, Myers JL
Department of
Pathology, Mayo Clinic,
Rochester, Minnesota
55905, USA.
Pg 124 of 139
BACKGROUND: Erdeheim-Chester disease is an uncommon histiocytosis. Fiftynine cases have been reported in the literature. Bone lesions are usually inaugural
followed by multiorgan involvement combining bone disease, orbital infiltration,
diabetes insipidis and retroperitoneal infiltration. CASE REPORT: A 53-year-old
man had Erdheim-Chester disease which progressed over 11 years. The patient
developed extrinsic obstruction of the upper urinary tract. This unusual
complication of Erdheim-Chester disease raised a difficult therapeutic problem as
percutaneous drainage was impossible. The patient was treated with an
endoprothesis allowing urine derivation. Surgical ureterolysis was avoided.
DISCUSSION: Data in the literature favor use of minimally invasive endourological
treatment for patients with urinary tract complications of Erdheim-Chester disease.
Erdheim-Chester disease usually involves the diaphyseal and metaphyseal regions
of tubular bones and various visceral organs. A 56-year-old woman presented with
the histologically confirmed diagnosis of Erdheim-Chester disease. A Tc-99m MDP
bone scan revealed the entire extent of the skeletal disease and showed unusual
involvement of the epiphyses and axial skeleton. In addition to MRI, a Ga-67 citrate
scan including SPECT showed extensive soft-tissue infiltration of different organs.
Both Tc-99m MDP and Ga-67 scintigraphy are useful tools in determining the
distribution of this rare disease.
Erdheim-Chester disease is a clinicopathologic entity defined by a characteristic
pattern of symmetric osteosclerosis caused by an infiltrate of mononuclear cells
that include prominent numbers of foamy histiocytes. About half of patients have
extraskeletal manifestations, including involvement of the hypothalamus/posterior
pituitary, orbit, retroperitoneum, skin, lung, and heart. Pulmonary involvement is an
uncommon but important manifestation of Erdheim-Chester disease because it
causes significant morbidity and mortality. A review of the Mayo Clinic files
produced four patients with confirmed Erdheim-Chester disease in whom lung
biopsy had been performed. One additional patient was included from the
University of Pittsburgh. Four patients were women. The mean age was 53.6 years
(range 25-70 years). All patients had bilateral and symmetric sclerotic bone lesions
characteristic of Erdheim-Chester disease, although in three the skeletal
abnormalities were discovered only after lung biopsy. Four patients had dyspnea,
and one also had a dry cough. One patient died 17 months after diagnosis. Chest
radiographs showed diffuse interstitial infiltrates in all patients, with an upper zone
predominance in three. Thoracic computed tomography (CT) scans showed
thickening of the visceral pleura and interlobular septa with patchy associated fine
reticular and centrilobular opacities and ground glass attenuation. Lung biopsy
specimens showed an infiltrate of foamy histiocytes, lymphocytes, and scattered
Touton giant cells with associated fibrosis in a striking lymphatic distribution. The
infiltrate involved visceral pleura, interlobular septa, and bronchovascular bundles.
Immunohistochemical stains were positive for CD68 in all cases and S-100 protein
in four cases. Stains for CD1a were consistently negative. Ultrastructural studies in
one case showed no Birbeck granules. Although in bone the histologic features of
Erdheim-Chester disease may overlap with Langerhans' cell histiocytosis, its
expression in the lung is distinct. Lung involvement in Erdheim-Chester disease
has emerged as a unique radiographic and histologic entity.
12/2/2015
10230410
10466521
9888700
1999
8: Clin Exp
Pathol;47(2):716
Brain stem
infiltration by mixed
Langerhans cell
histiocytosis and
Chester-Erdheim
disease: more than
just an isolated
case?
Vital C, BioulacSage P, Tison F,
Rivel J, Begueret
H, Gomez C,
Leaute-Labreze
C, Diard F, Vital
A
Laboratoire de
Neuropathologie,
Université Victor
Segalen, Bordeaux,
France.
1999
9: Eur
Radiol;9(1):1538
Erdheim-Chester
disease: a case
overview.
Kenn W, Stäbler
A, Zachoval R,
Zietz C, Raum
W, Wittenberg G
Institut für
Röntgendiagnostik der
Universität Würzburg,
Joseph Schneider
Strasse 2, D-97080
Würzburg, Germany.
1999
Jan
10: J Neurol
Neurosurg
Psychiatry;66(1)
:72-5
Neurological
manifestations of
Erdheim-Chester
disease.
Wright RA,
Hermann RC,
Parisi JE
Department of
Neurology, Mayo Clinic
and Mayo Foundation,
Rochester, Minnesota,
USA.
[email protected]
u
1999
Dec
11: J
Urol;162(6):208
4-5
Bilateral
hydronephrosis in a
patient with
Erdheim-Chester
disease.
Droupy S, Attias
D, Eschwege P,
Hammoudi Y,
Benoit G, Jardin
A
Paris-Sud University
School of Medicine and
Bicêtre Hospital, Le
Kremlin Bicêtre, France.
Pg 125 of 139
Langerhans cell histiocytosis is classically considered as totally different from
Chester-Erdheim's disease which consists in the infiltration of various parenchymas
by macrophagic CD68-positive histiocytes. We report the case of a 46-year-old
woman with a long history of diabetes insipidus who presented typical lesions of
Langerhans cell histiocytosis on vulvar and skin biopsies as well as bony cellular
infiltrates characteristic of Chester-Erdheim's disease. A few months later she
presented cerebellar disorders and died after an 18-month course. At autopsy the
pons was enlarged, due to numerous cellular infiltrates which were also scattered
in the middle cerebellar pedoncles, dentate nuclei, midbrain and hypothalamus.
There were S100-protein positive Langerhans cells intermingled with numerous
ovoid CD68-positive histiocytes. There are a few reported cases of ChesterErdheim's disease presenting foci of Langerhans cells histiocytosis in other
parenchymas. In addition, there are 10 reported cases with diabetes insipidus and
bilateral infiltration of the brain stem and cerebellum, considered as presenting
either one type of histiocytosis or the other. Our case demonstrates that both
histiocytoses may coexist in the brain and thus correspond in fact to the same
pathology in certain particular cases.
Erdheim-Chester (EC) disease belongs to the group of lipoid granulomatosis.
Symmetric sclerosis of the meta- and diaphysis of long tubular bones are
pathognomonic radiologic changes. Additionally, other skeletal segments can be
affected. Extraskeletal manifestations can occur in almost all organs; lungs,
pericardium, retroperitoneum, skin, and orbita play particularly important roles. The
last case of 38 cases of Erdheim-Chester disease with an extraordinary
mediastinal and perirenal involvement is described. For the second time following
the initial description by Chester, an axial skeletal pattern of eburnated vertebra is
shown.
Erdheim-Chester disease is a rare sporadic systemic histiocytic disease of
unknown aetiology that affects multiple organ systems. The case records of all
patients with Erdheim-Chester disease who had been seen at the Mayo Clinic
between 1975 and 1996 were reviewed to assess the neurological manifestations
of the disease. Two of 10 patients had neurological involvement. A 42 year old
woman developed central diabetes insipidus and a progressive cerebellar
syndrome. Brain MRI showed a lesion in the left pons with patchy gadolinium
enhancement and T2 weighted signal abnormalities extending into both cerebellar
peduncles and the medulla. Biopsy of the brainstem mass showed a
xanthogranulomatous lesion. The second patient was a 53 year old man with
retroperitoneal fibrosis secondary to xanthogranulomatous infiltration. Although he
had no neurological symptoms and a normal neurological examination, MRI of the
head showed multiple uniformly enhancing extra-axial masses along the dura of
both convexities and the falx, and a mass in the left orbital apex. Both patients had
the characteristic radiographic and bone scan findings of Erdheim-Chester disease.
Review of the literature disclosed a wide variety of neurological manifestations in
Erdheim-Chester disease. The most frequent CNS manifestations are diabetes
insipidus, cerebellar syndromes, orbital lesions, and extra-axial masses involving
the dura.
10398577
9933400
9886456
10569576
12/2/2015
1999
May
12: Radiol Med
(Torino);97(5):4
22-4
[Erdheim Chester
disease:
autonomous entity
or expression of
Langerhans cell
histiocytosis?
Report of a case]
Popolizio T, De
Serio A,
Scarabino T,
Bisceglia M,
Cammisa M
1999
Apr
13: Eur J
Radiol;30(1):704
Erdheim-Chester
disease.
1999
Jul
14: Hum
Pathol;30(7):77
0-80
Posttraumatic fibroosseous lesion of
rib.
Lozano JG,
Lopez-Negrette
L, Sanchez JL,
Sala J
McDermott MB,
Kyriakos M,
Flanagan FL
1998
Dec
1: J Intern
Med;244(6):529
-35
Endocrine
manifestations of
Erdheim-Chester
disease (a distinct
form of
histiocytosis).
Tritos NA,
Weinrib S, Kaye
TB
Division of
Endocrinology, Beth
Israel Deaconess
Medical Center, Boston,
Massachusetts, USA.
1998
Oct
2: J Neurol
Neurosurg
Psychiatry;65(4)
:597-9
report of two cases
with progressive
cerebellar
syndrome with
dentate
abnormalities on
magnetic
resonance imaging.
Pautas E, Chérin
P, Pelletier S,
Vidailhet M,
Herson S
Medicine, Hôpital de la
Pitié-Salpétrière, Paris,
France.
Pg 126 of 139
Dipartimento di
Diagnostica per
Immagini, IRCCS Casa
Sollievo della
Sofferenza, Rotondo
FG.
dallapiccola@operapadr
epio.it
Servicio de Radiologia,
Hospital Valle del Nalon,
Asturias, Spain.
Department of
Radiology, Washington
Medicine, St Louis, MO,
USA.
10432980
10389016
Eleven cases are described of an unusual, benign, fibro-osseous lesion of rib
previously reported under a variety of designations, including painless fibroosseous lesion resembling osteoid osteoma, symmetrical fibro-osseous dysplasia,
focal Erdheim-Chester disease, and fibro-osseous pseudotumor. All patients were
adults, most of whom were asymptomatic, the lesion discovered by bone scans
done to rule out metastatic disease. A single rib was involved in eight patients and
multiple ribs in three. A roentgenographic abnormality was apparent in only five
patients. Histologically, all lesions showed a bland fibrous stroma in which resided
an anastomosing network of bone trabeculae, having a zonal pattern of maturation
from metaplastic woven to mature lamellar bone, with or without an associated
xanthomatous component. Seven patients had a history of previous trauma, three
with fractured ribs. Considering the relative infrequency of solitary rib lesions
attributable to metastatic disease, it is proposed that in most cases there is no
need for a diagnostic rib resection for these incidentally discovered, posttraumatic
reparative lesions.
Erdheim-Chester disease (ECD) is a disorder of unclear aetiology, characterized by
exuberant histiocyte proliferation and a variable clinical course. We report the case
of a woman with multi-organ involvement secondary to ECD. Central diabetes
insipidus (CDI), hyperprolactinaemia, gonadotropin insufficiency and decreased
insulin-like growth factor I levels were present, suggesting hypothalamic-pituitary
dysfunction. The high-intensity signal of the posterior pituitary on T1-weighted
images was absent on magnetic resonance imaging, but no sellar mass lesions or
stalk thickening were apparent. Additionally, our patient had bilateral adrenal
enlargement. Even though ECD is a rare cause of neuroendocrine dysfunction or
adrenal enlargement, it should be considered in patients with these disorders in the
setting of multiorgan disease.
Two patients with Erdheim-Chester disease with progressive cerebellar dysfunction
and pyramidal signs are reported on. Cerebral MRI showed bilateral increased
signal intensity in peridentatal regions on T2 weighted sequences. Both patients
had kidney and bone involvement, established on bone biopsy for one. One patient
improved with steroid therapy. This contrasts with previous reports, which describe
rare neurological manifestations and the failure of different therapeutic approaches.
12/2/2015
10414495
9893107
9771797
1998
Jun
3:
Orbit;17(2):97105
Bilateral orbital
involvement in
Erdheim-Chester
disease.
de Palma P,
Ravalli L,
Grisanti F, Rossi
A, Marzola A,
Nielsen I
Department of
Ophthalmology,
University of Ferrara,
Ferrara, Italy
1998
May
4: Ann Dermatol
Venereol;125(5)
:335-8
[Langerhans-cell
histiocytosis and
Erdheim-Chester
disease: probably
not a fortuitous
association]
Boralevi F,
Léauté-Labrèze
C, Tison F,
Bioulac-Sage P,
Vital C, Delbrel
X, Cony M,
Géniaux M
Clinique
Dermatologique, Hôpital
Pellegrin, Bordeaux.
1998
May
5: Mov
Disord;13(3):57
6-81
Evidente VG,
Adler CH,
Giannini C,
Conley CR,
Parisi JE,
Fletcher GP
Department of
Neurology, Mayo Clinic
Scottsdale, Arizona
85259, USA.
1998
Mar
6: Skeletal
Radiol;27(3):12
7-32
Erdheim-Chester
disease with
extensive intraaxial
brain stem lesions
presenting as a
progressive
cerebellar
syndrome.
Erdheim-Chester
disease:
radiographic
findings in five
patients.
Bancroft LW,
Berquist TH
Department of
Mayo Clinic
Jacksonville, FL 32224,
USA.
Pg 127 of 139
Erdheim-Chester disease is an idiopathic condition characterized by a
xanthogranulomatous process infiltrating the bones, lungs, heart, retroperitoneum
and other tissues. This condition is often fatal. Ocular findings are rare. The
authors report a case of bilateral xanthelasmas and bilateral massive orbital
infiltration in a 61-year-old man with severe retroperitoneal fibrosis, renal and
cardiovascular problems. The ophthalmic manifestations and differential diagnosis
of this peculiar pathologic condition are discussed.
BACKGROUND: Erdheim Chester disease (MEC) is a rare non-Langerhans cell
histiocytosis characterized by multi-visceral involvement. We report a case of MEC
associated with Langerhans cell histiocytosis (HCL). CASE REPORT: A 46-yearold women presented skin and vulvar localization of HCL associated with typical
MEC bone involvement. Despite chemotherapy (vinblastine) and prednisone, the
disease progressed to involve the central nervous system, leading to fatal
outcome. Post-mortem examination showed HCL in skin, MEC in bones and
central nervous system, and intermediate histiocytic proliferation in the encephalon.
DISCUSSION: Usually, MEC and HCL are considered as distinct entities. MEC is
characterized by a xanthogranulomatous proliferation of CD 68+ foamy histiocytes
nested in fibrosis, and HCL by a proliferation of PS 100+ and CD1a+ Langerhans
cells. However, our observation, as well as previous reports, suggests that MEC is
part of the HCL spectrum.
We report a rare case of Erdheim-Chester disease (ECD) presenting as a
progressive cerebellar syndrome and diabetes insipidus. On magnetic resonance
imaging, a 7-mm extraaxial, enhancing mass was seen enveloping the right
vertebral artery and was confirmed at autopsy to represent an adventitial xanthoma
with lipid-laden, foamy histiocytes. The cerebellar syndrome most likely resulted
from extensive histiocytic infiltration of the pons, particularly the basis pontis and
middle cerebellar peduncles.
12048709
We present the case histories of five patients with Erdheim-Chester disease, a rare
lipoidosis that has several typical radiographic features. In all the patients, the
diaphyses and metaphyses of the extremities demonstrated a symmetric pattern of
diffuse or patchy increased density, a coarsened trabecular pattern, medullary
sclerosis, and cortical thickening. The epiphyses were spared in four patients and
partially involved in one. The axial skeleton was involved in one patient.
Radiotracer 99mTc accumulated in areas of radiographic abnormalities in all
patients. In one patient, MRI demonstrated an abnormal signal, corresponding to
radiographic abnormalities. The signal was hypointense to muscle on T1-weighted
sequences and heterogeneously hyperintense and hypointense to normal bone
marrow on T2-weighted sequences. Xanthogranulomatous lesions infiltrated the
retroperitoneum in one patient, the testes in one patient, the eyelids in one patient,
and the orbits in two patients.
9554002
12/2/2015
9747283
9613758
1998
Feb
7: Am J Respir
Crit Care
Med;157(2):650
-3
Erdheim-Chester
disease: a primary
macrophage cell
disorder.
Devouassoux G,
Lantuejoul S,
Chatelain P,
Brambilla E,
Brambilla C
Department of
Hopital Albert Michallon,
Grenoble, France.
1998
Apr
8:
Rofo;168(4):397
-9
Jacobs A, Jäger
H, Walther L,
Schatz T
Institut für
Strahlendiagnostik,
Städtische Kliniken
Dortmund Mitte.
1998
Mar
9: J Neurol
Neurosurg
Psychiatry;64(3)
:420-1
1998
Nov
10: Dtsch Med
Wochenschr;12
3(45):1337-42
[Erdheim-Chester
lipogranulomatosis
with involvement of
the breast]
Erdheim-Chester
disease and slowly
progressive
cerebellar
dysfunction.
[Xanthoma
disseminatum with
marked
mucocutaneous
involvement]
Pg 128 of 139
Erdheim-Chester disease (ECD) is a rare focal or systemic infiltrative disorder
resulting from xanthogranulomatous tissue deposition. Usually, bone marrow
involvement affects long bone metaphyses symmetrically, but it spares the
epiphyses. Retroperitoneal space, periaortic area, skin, and brain involvement
have been described. Pulmonary involvement is frequent, occurring in 20% of
cases. Reported histologic features in the lung include an infiltration of so-called
lipid-laden macrophages and granulomatous lesions with fibrosis. Lung function
outcome is unpredictable, but terminal respiratory failure is the most frequent
cause of death. No effective treatment strategies have been described. We report a
new case with lung and bone involvement occurring in a symptomatic woman.
Histologic and electron microscopic analysis of the pulmonary infiltrate showed
abnormal macrophages devoid of lipids forming nodular granulomas and rendering
the previous hypothesis of this disease as a primary lipid storage disorder unlikely.
These findings suggest that ECD histogenesis is instead based on a primary
macrophage cell disease.
9589106
S Bohlega
Tietge UJ,
Maschek H,
Schneider A,
Gawehn AE,
Wagner S,
Manns MP,
Schmidt HH
9476885
9527179
Abteilung
Gastroenterologie und
Hepatologie,
Medizinische
Hochschule Hannover.
HISTORY AND CLINICAL FINDINGS: When aged 23 years, a now 36-year-old
man was first diagnosed as having xanthomas on the upper arms and shoulders.
Xanthomas then progressed, affecting both the skin and the laryngo-pharyngeal
mucosa. They were so marked that several laser-surgical interventions for their
removal in the phayngo-laryngeal tract were necessary to ensure unimpaired
breathing. There were also extensive confluent symmetrical cutaneous xanthomas
over the upper and lower arms, the face, neck and trunk. Xanthomas and scars in
the pharynx and larynx necessitated marked nasal breathing. INVESTIGATIONS:
There was no laboratory evidence of abnormal lipid metabolism. The
concentrations of cholesterol, triglycerides, lipoprotein (a), apolipoprotein A-1,
apolipoprotein B, apolipoprotein E phenotype and steroles were all normal. The
biochemical composition of LDL, VLDL and HDL particle was also unremarkable.
Histological examination of resected xanthomas revealed dense infiltrations of the
interstitial spaces by foam-cell histiocytes with multiple lipid vacuoles, typical of
xanthoma disseminatum. TREATMENT AND COURSE: Neither probucol nor
cholesterol synthesis enzyme inhibitors nor glucocorticoid medication influenced
the xanthomas. The only effective treatment was removal of the most unsightly or
obstructing lesions. But the sars left removal in the mucocutaneous regions caused
obstruction in the laryngopharyngeal tract. CONCLUSION: The cause of xanthoma
disseminatum remains unknown. Skeletal muscle can also be extensively
infiltrated. This case shows similarities to Erdheim-Chester disease, another are
xanthomatous condition.
12/2/2015
9835892
1997
Dec
1:
Neurology;49(6)
:1702-5
Cerebral
manifestation of
Erdheim-Chester
disease: clinical
and radiologic
findings.
Bohlega S,
Alwatban J,
Tulbah A,
Bakheet SM,
Powe J
Department of
Neurosciences, King
Faisal Specialist
Hospital & Research
Centre, Riyadh, Saudi
Arabia.
1997
Nov
2: Arch
Ophthalmol;115
(11):1467-8
with orbital
involvement.
Valmaggia C,
Neuweiler J,
Fretz C, Gottlob I
Department of
Strabismus and Neuroophthalmology,
Kantonsspital, St Gallen,
Switzerland.
1997
Nov
3: J
Neuropathol
Exp
Neurol;56(11):1
207-16
Pathology of the
central nervous
system in ChesterErdheim disease:
report of three
cases.
Adle-Biassette
H, Chetritt J,
BergemerFouquet AM,
Wechsler J,
Mussini JM,
Gray F
Département de
Pathologie
(Neuropathologie)
Hôpital Universitaire
Henri Mondor, Créteil,
France.
Pg 129 of 139
A 33-year-old woman presented with a 3-year history of progressive numbness in
the hand, cerebellar ataxia, limb weakness, nystagmus, and dysarthria. T2weighted MRI revealed abnormal foci of increased signal intensity mimicking
demyelinating plaques in the periventricular white matter, and brain 18FDG-PET
scan showed increased uptake in the pons. Biopsy from a tibial lesion showed
aggregates of foamy histiocytes in the intertrabecular spaces replacing the bone
marrow, characteristic of Erdheim-Chester disease. The patient was treated with
craniospinal radiation. After 6 months, the clinical picture was stable and the MRI
was unchanged.
The Erdheim-Chester disease is a rare idiopathic, systemic, histiocytic disorder. To
our knowledge, ocular involvement has been reported in only 16 cases. We
describe a 55-year-old man who had symmetrical exophthalmos and several skin
nodules on the arms and trunk. A magnetic resonance imaging scan confirmed the
presence of bilateral, intraconal, retrobulbar tumors. An examination of the
histopathologic features of orbital and skin biopsy specimens revealed
xanthogranulomatous infiltrate with Touton giant cells. Further systemic
investigations showed bone and retroperitoneal involvement. Three years later,
multiple eyelid xanthelasmas developed in the patient. These findings are
consistent with the diagnosis of the Erdheim-Chester disease. The patient's
condition is stable under therapy with low-dose corticosteroids. His survival is
longer than usually described in the literature.
Chester-Erdheim disease is a rare form of non-Langerhans cell histiocytosis
consisting of disseminated xanthogranulomatous infiltration and fibrosis that
primarily involves the bones, visceral organs and systemic fatty spaces.
Involvement of the central nervous system is variable, and neuropathological
features have seldom been documented. We report the neuropathological findings
in 3 autopsy cases. One patient had radiological and pathological bone changes
characteristic of Chester-Erdheim disease. Neuropathology revealed multiple
characteristic xanthogranulomas disseminated in the cerebral hemispheres,
hypothalamus, cerebellum, and brainstem. The second patient presented first with
cutaneous lesions characteristic of Langerhans cell histiocytosis. She subsequently
developed bone abnormalities suggestive of Chester-Erdheim disease, which was
confirmed by autopsy, raising the possibility of a common spectrum of histiocytosis
including both diseases. Gross examination of the brain was normal, however,
microscopy showed infiltration of the brain by characteristic non-Langerhans cell
xanthogranulomas. The third patient presented with systemic features
characteristic of Chester-Erdheim disease. Neurological signs included gait
disturbance, seizures and confusion. Examination of the brain did not show any
histiocytic infiltration, but did show changes suggestive of Hallervorden-Spatz
syndrome. Association of Chester-Erdheim disease and Hallervorden-Spatz
syndrome has not been previously reported. The relationship between both
conditions is unclear.
12/2/2015
9409372
9366683
9370231
1997
Oct
4:
Metabolism;46(
10):1215-9
Erdheim-Chester
disease: low lowdensity lipoprotein
levels due to rapid
catabolism.
Schmidt HH,
Gregg RE,
Shamburek R,
Brewer BH, Zech
LA
Molecular Disease
Branch, National Heart,
Lung, and Blood
Institute, National
Bethesda, MD, USA.
1997
5: Clin
Imaging;21(5):3
28-31
Kim EE, Romero
JA
1997
May
6: J
Neurosurg;86(5)
:888-92
Erdheim-Chester
disease
demonstrated by
bone radiograph
and scans.
Erdheim-Chester
disease of the
central nervous
system. Report of
two cases.
Texas M. D. Anderson
Cancer Center, Houston
77030, USA.
Department of
Neurosurgery, New York
Medical College,
Valhalla, USA.
1997
Apr
7:
Histopathology;
30(4):353-8
Erdheim-Chester
disease with
prominent
pulmonary
involvement
associated with
eosinophilic
granuloma of
mandibular bone.
Kambouchner M,
Colby TV,
Domenge C,
Battesti JP,
Soler P, Tazi A
1997
8: J Fr
Ophtalmol;20(5)
:331-2
[Erdheim-Chester
disease. Survey of
a rare nonLangerhans
histiocytosis]
Veyssier-Belot
C, Wechsler J,
Cacoub P
Pg 130 of 139
Babu RP,
Lansen TA,
Chadburn A,
Kasoff SS
Service d'Anatomie
Pathologique, Hopital
Avicenne, Bobigny,
France.
We have identified a 44-year-old patient with symmetrically excessive
xanthomatosis, called Erdheim-Chester disease (ECD), and simultaneously
decreased levels of low-density lipoprotein (LDL) cholesterol. Clinically, this patient
presents lipoidgranulomatosis of numerous long and flat bones with involvement of
the liver, spleen, pericardium, pleura, thyroid, skin, conjunctiva, and gingiva.
However, the patient does not have any signs of atherosclerosis. So far, the
underlying defect has not been elucidated. We performed a LDL-apolipoprotein B
(apoB) kinetic study in the ECD patient and a normal control to determine the
etiology of the low LDL level in ECD. LDL was isolated from both subjects,
radioiodinated with either 131I or 125I, and injected simultaneously into the ECD
patient and the normal control. Normal and ECD LDL was catabolized at the same
rate after injection into the control subject (fractional catabolic rate [FCR], 0.43/d
and 0.46/d, respectively). Therefore, LDL isolated from an ECD subject is
metabolically normal. In contrast, autologous LDL injected into the ECD subject
showed a markedly increased catabolism (FCR, 0.69/d) compared with that in the
control subject (FCR, 0.43/d). This is the first report about increased catabolism of
LDL cholesterol in a patient.
Two cases of patients with Erdheim-Chester disease (EC) are presented with
interesting scintigraphic findings. Differential diagnosis of bone scan and
radiographic findings is briefly discussed.
9322810
The authors report two cases of Erdheim-Chester disease (ECD), an illness of
unknown pathogenesis. Generally, this disease process involves the metaphyseal
and diaphyseal portions of the long bones, the lungs, and the retroperitoneum;
however, other tissues may be involved including the central nervous system
(CNS). To date only two cases of CNS-related ECD have been reported. The
present report adds to the literature by documenting two more recent cases of ECD
involving the CNS. The clinical presentations of these cases, their radiological
findings with special reference to magnetic resonance imaging, pathological
determination, and clinical management are briefly reviewed.
We report a patient with eosinophilic granuloma localized to the left mandible who
was subsequently shown to have Erdheim-Chester disease involving the lower
extremities, omentum and lung. The diagnosis of eosinophilic granuloma was
based on the presence of typical CD1a+ Langerhans' cell granulomas in a biopsy
of mandible. The diagnosis of Erdheim-Chester disease was established on the
basis of the pattern of radioisotopic uptake by long bones, seen on a technetium
bone scan, and the presence of characteristic histopathological features in biopsies
of lung and peritoneum. The pathological findings in lung were compatible with the
abnormalities observed by tomodensitometry, but strikingly different from those
seen in Langerhans' cell granulomatosis. The differences in the histological
features of pulmonary involvement seen in the two diseases, and the possible
relationship between Langerhans' cell granulomatosis and Erdheim-Chester
disease, are discussed.
9126908
9316751
9147084
9238468
12/2/2015
1997
Nov
9: Klin Monatsbl
Augenheilkd;21
1(5):342-4
[Bilateral adult
periocular
xanthogranuloma]
Spraul CW,
Grossniklaus
HE, Lang GK
L. F. Montgomery Eye
Pathology Laboratory,
Emory University School
of Medicine Atlanta, GA,
USA.
1997
Jun
10: Am J Surg
Pathol;21(6):66
4-8
Breast involvement
by extranodal
Rosai-Dorfman
disease: report of
seven cases.
Green I,
Dorfman RF,
Rosai J
Department of
Pathology, Memorial
Center, New York, New
York 10021, USA.
1996
Dec
1: J
Radiol;77(12):1
213-21
[Imaging of
Erdheim-Chester
disease]
Gomez C, Diard
F, Chateil JF,
Moinard M,
Dousset V, Rivel
J
Service de Radiologie A,
Professeur Diard,
Hôpital Pellegrin,
Bordeaux.
1996
Aug
2: Nippon Igaku
Hoshasen
Gakkai
Zasshi;56(9):68
1-3
[A case report of
Erdheim-Chester
disease]
Furutani K,
Kurosawa Y,
Kageyama T,
Kaneko M
Department of
Radiology, Seirei
Hamamatsu General
Hospital.
Pg 131 of 139
PATIENT: A 62-year-old woman was evaluated for a bilateral subconjunctival mass
that had been present for 6 months. With magnetic resonance imaging the lesion
could not be delineated form the lacrimal glands. A biopsy was performed and
histologic examination exhibited a xanthogranulomatous lesion with multiple giantcells of the Touton type. The differential diagnosis of the adult xanthogranuloma is
Erdheim-Chester disease, necrobiotic granuloma, xanthoma, Langerhans
histiocytosis, and Rosai-Dorfman syndrome. CONCLUSION: Hyperlipemia should
be excluded, in addition, in the presence of necrobiosis, paraproteinemia.
Seven cases of breast involvement by extranodal Rosai-Dorfman disease are
presented. The patients were women and their ages ranged from 15 to 84 years.
Three patients had disease confined to the breast; one had involvement of the
breast and ipsilateral axillary lymph nodes, and two had bilateral breast
involvement as well as disseminated systemic disease. In all cases the clinical and
radiographic presentation of the breast lesion raised the possibility of a malignant
tumor. All but one of the lesions were treated by excisional biopsy. Microscopically,
the lesions were relatively circumscribed, often multinodular masses, located in the
breast stroma, with or without associated involvement of the subcutaneous tissue
and dermis. They were composed of sheets of S-100 protein-positive large
histiocytes displaying lymphocytophagocytosis, scattered in a polymorphous
background of mature lymphocytes and plasma cells. The microscopic differential
diagnosis includes idiopathic granulomatous mastitis, infective granulomas,
Langerhans' cell histiocytosis, Erdheim-Chester disease, fibrous histiocytoma, and
malignant melanoma.
Erdheim-Chester disease is a form of Histiocytosis which involves the adults and is
distinct from Histiocytosis X. It is characterized by a constant diaphyseal and
metaphyseal bone involvement predominating in the lower links. The diagnosis can
readily be envisaged when the typical radiological findings are present. Bone
involvement may be isolated and well tolerated, or can be associated with systemic
involvement and a severe prognosis. We describe three cases of women aged 46,
50 and 73 years. One patient presented with isolated bone lesions, while the two
others had a multiorgan localization. From the three cases and from an extensive
review of the literature, we describe the spectrum of bone and visceral lesions that
can be seen by imaging. The emphasis is put on lesions of the skeletal system, the
retroperitoneum, the nervous system, and the pericardium. Furthermore, the
relationships between Erdheim-Chester disease and Histiocytosis X are discussed.
Erdheim-Chester disease is a rare and distinctive lipid granulomatosis with
characteristic pattern of radiographic changes in bone. The characteristic
radiographic finding is an unusual symmetrical sclerosis at the diametaphyseal
portions of many long bones. This study demonstrates a case of Erdheim-Chester
disease and mainly documents radiographic findings.
12/2/2015
9527593
9199644
9033881
8831229
1996
May
3: Medicine
(Baltimore);75(3
):157-69
Erdheim-Chester
disease. Clinical
and radiologic
characteristics of
59 cases.
Veyssier-Belot
C, Cacoub P,
CaparrosLefebvre D,
Wechsler J, Brun
B, Remy M,
Wallaert B, Petit
H, Grimaldi A,
Wechsler B,
Godeau P
interne, hôpital PitiéSalpêtrière, Paris,
France.
1996
Jan
4: Hum
Pathol;27(1):915
Erdheim-Chester
disease: a case
report with
immunohistochemi
cal and biochemical
examination.
Ono K, Oshiro
M, Uemura K,
Ota H,
Matsushita Y,
Ijima S, Iwase T,
Uchida M,
Katsuyama T
Department of
Pathology, Tosei
General Hospital, Seto,
Japan.
1995
Oct
1: AJNR Am J
Neuroradiol;16(
9):1787-90
Erdheim-Chester
disease: MR of
intraaxial and
extraaxial brain
stem lesions.
R Martinez
Department of
Radiology, New York
Medical College,
Valhalla, USA.
Pg 132 of 139
We made a retrospective evaluation of clinical and radiologic features, treatment,
and outcome of Erdheim-Chester disease, a rare non-Langerhans cell
histiocytosis. We had 7 patients coming from 3 French teaching hospitals and
reviewed 52 cases from the literature. These cases were considered to have
Erdheim-Chester disease when they had either typical bone radiographs
(symmetrical long bones osteosclerosis) and/or histologic criteria disclosing
histiocytic infiltration without features for Langerhans cell histiocytosis (no S-100
protein, no intracytoplasmic Birbeck granules). Ages at diagnosis ranged from 7 to
84 years (mean +/- SD = 53 +/- 14 yr) with a male/female ratio of 33/26. Bone pain
was the most frequent clinical sign (28/59), mostly located in the lower limbs.
Exophthalmos and diabetes insipidus were found in respectively 16/59 and 17/59
patients. General symptoms (fever, weight loss) and "xanthomas" (mainly located
on the eyelids) were present in 11/59 patients. Retroperitoneal involvement was
found in 17/59 patients. Skeletal X-ray showed typical osteosclerosis of the
diaphysis of the long bones in 45/59 patients. Bone radiographs showed osteolytic
lesions of the flat bones (skull, ribs) in 8 patients. Histologic diagnosis was
performed after a bone biopsy (28 patients), a retroorbital biopsy (9 patients),
and/or a biopsy of the retroperitoneal infiltration or the kidney (11 patients). Six of
our 7 patients but only 5 of 52 patients from the literature had the complete
histologic criteria, disclosing no Birbeck granules or S-100 immunostaining. In other
cases, histologic results usually described a xanthogranulomatous infiltration by
foamy histiocytes nested in fibrosis. Treatment was corticotherapy (20/59),
chemotherapy (8/59), radiotherapy (6/59), surgery (3/59) and immunotherapy (1
patient). Twenty-two patients died after a mean follow-up of 32 +/- 30 mo (range, 3120 mo). In conclusion, Erdheim-Chester disease may be confused with
Langerhans cell histiocytosis as it sometimes shares the same clinical
(exophthalmos, diabetes insipidus) or radiologic (osteolytic lesions) findings.
However, it also appears to have distinctive features. Patients are older and have a
worse prognosis than those with Langerhans cell histiocytosis, and the diagnosis
relies on the association of specific radiologic and histologic findings.
This report describes a 47-year-old man with Erdheim-Chester disease (EC), the
second case reported in Japan. The patient complained of knee pain, and the
roentgenogram of the bilateral legs revealed symmetric osteolytic lesions with
sclerosis of the metaphyseal regions of the long bones. Histological examination of
the biopsy specimen showed a xanthogranulomatous lesion consisting of
aggregations of foamy macrophages and Touton-type giant cells.
Immunohistochemical study of the foamy cells in the lesion showed positive
reaction to anti-Kp-1, anti-S-100 alpha, beta, anti-neuron-specific enolase (NSE),
anti-alpha-1-antichymotrypsin, anti-alpha-1-antitrypsin, and anti-lysozyme
antibodies. Electron microscopy showed many lipid droplets in the cytoplasm, but
no Langerhans granules. These results suggested that the disease was part of the
spectrum of histiocytosis but was different from Langerhans cell histiocytosis.
Biochemical analysis of material extracted from a lesion showed the predominance
of cholesterol ester. The disease progressed to central diabetes insipidus, and the
involvement of multiple organs was indicated by a magnetic resonance image.
A case of Erdheim-Chester disease demonstrates cerebral hemispheric
involvement, as well as and intraaxial and extraaxial brain stem involvement in a
patient with symptoms of paraparesis, urinary incontinence, visual loss, ataxia,
vertigo, proptosis, and nystagmus. Persistent gadopentetate dimeglumine
enhancement was noted in the extraaxial cervicomedullary brain stem lesion 23
days after injection. However, the supratentorial lesions fail to show similar
persistent enhancement. This case also demonstrates MR features characteristic
of retrobulbar infiltration.
12/2/2015
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8543320
8693976
1995
Apr
2: AJNR Am J
Neuroradiol;16(
4):735-40
Neuroradiologic
aspects of ChesterErdheim disease.
1995
Feb
3: J Neurol
Neurosurg
Psychiatry;58(2)
:238-40
Erdheim-Chester
disease and slowly
progressive
cerebellar
dysfunction.
1995
4: Ann
Pathol;15(1):5962
[Erdheim-Chester
disease. Clinicopathologic study of
two cases]
1995
5: J Fr
Ophtalmol;18(3)
:220-5
[Orbital ErdheimChester disease]
1995
May
6: AJR Am J
Roentgenol;164
(5):1115-7
1994
Aug
1: Am J Surg
Pathol;18(8):84
3-8
1994
2: J Fr
Ophtalmol;17(3)
:200-3
Pg 133 of 139
CaparrosLefebvre D,
Pruvo JP, Rémy
M, Wallaert B,
Petit H
Fukazawa T,
Tsukishima E,
Sasaki H,
Hamada K,
Hamada T,
Tashiro K
Department of
Neurology, CHRU Lille,
France.
Farre I, Copin
MC, Boulanger
E, Remy J,
Wallaert B,
Gosselin B
Offret H,
Hannouche D,
Frau E, Doyon
D, Quillard J,
Schaison G
Service d'Anatomie et
de Cytologie
Pathologiques, Hôpital
Calmette, CHU Lille.
Erdheim-Chester
disease involving
breast and muscle:
imaging findings.
Retroperitoneal
xanthogranuloma in
a patient with
Erdheim-Chester
disease.
Tan AP, Tan LK,
Choo IH
Department of
National University of
Singapore.
Indiana University
School of Medicine,
Indianapolis.
[Erdheim-Chester
disease. A rare
etiology of
retrobulbar tumor]
Chollet P,
Eyremandi R,
Lesueur L, Arne
JL
Eble JN,
Rosenberg AE,
Young RH
Hokuyukai Neurology
Hospital, Sapporo,
Japan.
Service
d'Ophtalmologie, C.H.U.
Bicêtre.
Service
d'Ophtalmologie, Hôpital
Purpan, Toulouse.
In three cases of histologically proved Chester-Erdheim disease there was a large
anterior epidural lesion from C-3 to L-2 in one patient; dural masses and orbital
infiltration in a second patient; and dural, choroid plexus, retroorbital, and
hypophyseal lesions in a third patient. Diabetes insipidus, exophthalmia, long bone
lesions, and retroperitoneal infiltration were present.
A 59 year old woman developed pronounced thirst, increased water intake, and
increased urinary output followed by slowly progressive cerebellar symptoms. Brain
MRI showed abnormal hyperintensity on T2 weighted studies in the region of both
dentate nuclei without atrophy of the cerebellum or the brainstem. A 99mTC
diphosphonate bone scan showed bone lesions in the distal parts of both femurs
as well as distal and proximal parts of both tibias. The diagnosis of ErdheimChester disease was made by bone biopsy. This is the first case of ErdheimChester disease presenting as a slowly progressive cerebellar syndrome and
diabetes insipidus, and also showing high signal lesions in deep cerebellar nuclei
on MRI. Skeletal surveys are indicated for patients with otherwise unexplained
slowly progressive cerebellar symptoms.
Erdheim-Chester disease is a rare visceral xanthogranulomatosis characterized by
bilateral, symmetrical sclerosis of the metaphyseal regions of long bones and
infiltration of foamy, lipid-laden histiocytes. Clinically, it ranges from an
asymptomatic, focal process to a fatal, systemic disease. We report two new
cases, different in their presentation and extension.
Erdheim-Chester disease is related to a tissue infiltration of foamy histiocytes.
Results of immunoperoxydase stains for S-100 and T6 protein, the Langerhans
cells antigen, is negative. It is a multisystemic disease, and it particularly involves
bones and orbit. The visual prognosis is threatened, and the disease may lead to a
fatal issue. Treatments have poor effects on the disease. Patients sometimes have
good symptomatic response to corticotherapy. This case was revealed by
headaches and diabetes insipidus. The orbital infiltration was asymptomatic.
7717216
7611030
A case of Erdheim-Chester disease with retroperitoneal and renal sinus
xanthogranuloma that occurred in a 50-year-old woman is presented. The 12
previously reported cases of Erdheim-Chester disease associated with
retroperitoneal xanthogranuloma are reviewed and compared with 13 sporadic
cases of retroperitoneal xanthogranuloma. Retroperitoneal xanthogranuloma is
distinguished from inflammatory malignant fibrous histiocytoma by its lack of
neutrophils, inconspicuous vascularity, lack of nuclear atypia, and abundant
collagen. It is distinguished from inflammatory fibrosarcoma by its numerous foamy
histiocytes, relative lack of plasma cells, and lack of nuclear atypia; it is
distinguished from retroperitoneal fibrosis principally by its many foamy histiocytes,
lack of plasma cells, and lack of vasculitis.
The authors report the case of a 47 year old man who presented with bilateral
retro-ocular tumor and an inflammatory syndrome as the first sign of his disease.
Later on, the illness became polyvisceral and biopsies of retro-ocular and retroperitoneal tissues revealed the diagnosis of Erdheim-Chester disease. The patient
died a few months later.
8037299
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7702670
7759761
8182258
1994
3: J Comput
Assist
Tomogr;18(3):5
03-5
1993
Oct
1: Rev Rhum Ed
Fr;60(9):601-9
1993
May
2: J Clin
Pathol;46(5):48
1-2
1993
3: Trans Am
Ophthalmol
Soc;91:99-125;
discussion 1259
1992
Oct
1: Presse
Med;21(36):171
4-6
Pg 134 of 139
T of ErdheimChester disease
presenting as
retroperitoneal
xanthogranulomato
sis.
[Erdheim-Chester
disease: report of a
case, review of the
literature and
discussion of the
relation to
Langerhans-cell
histiocytosis]
Chiang KS,
Larson TS,
Swee RG,
Bostwick DG,
LeRoy AH
Department of
Radiology, Mayo Clinic,
Rochester, MN.
Pertuiset E,
Laredo JD, Lioté
F, Wassef M,
Jagueux M,
Kuntz D
Clinique de
Rhumatologie, Hôpital
Lariboisière, Paris.
Erdheim-Chester
disease with
epiphyseal and
systemic disease.
Periocular
xanthogranulomas
associated with
severe adult-onset
asthma.
Athanasou NA,
Barbatis C
Department of
Pathology, Nuffield
Orthopaedic Centre,
Oxford.
Massachusetts Eye and
Ear Infirmary, Boston.
[Chester-Erdheim's
disease. A case]
Boulanger E,
Talaszka A, Le
Monies de
Sagazan H
Jakobiec FA,
Mills MD,
Hidayat AA,
Dallow RL,
Townsend DJ,
Brinker EA,
Charles NC
Service de NéphrologieHémodialyse, Hôpital
Victor Provo, Roubaix.
8188927
Erdheim-Chester disease is an endogenous, non-genetically-determined lipidosis
characterized by infiltrates of foamy, lipid-laden histiocytes and by bilateral
symmetric foci of sclerosis in appendicular long bones. The clinical spectrum
ranges from focal bone lesions to systemic disease with life-threatening visceral
involvement. In one third of patients, roentgenograms show focal osteolysis within
areas of sclerosis. Authors report a new case of Erdheim-Chester disease
documented by two bone biopsies in different sites. Features in their patient
included: 1) osteolysis and sclerosis of the long bones of the limbs and maxillas,
with CT scan evidence of cortical rupture; 2) on magnetic resonance imaging
studies, heterogeneous foci of decreased signal intensity on T1 images and
heterogeneous areas of moderately increased signal intensity on T2-weighted
images; 3) increased serum osteocalcin levels; 4) laboratory evidence of chronic
inflammation with no extraosseous manifestations. The clinical, radiological, and
pathological features of Erdheim-Chester disease are different from those of
Langerhans cell histiocytosis. However, three cases of patients with both
conditions have been reported in the literature, suggesting that there may be links
between the two diseases.
A case of Erdheim-Chester disease which affected the epiphysis and showed
evidence of systemic disease is presented. Clinical and histopathological
similarities with other forms of disseminated Langerhans' cell histiocytosis are
noted, particularly reaction of infiltrating histiocytes for S100 and HLA-DR.
This article describes six patients who presented, usually bilaterally, with yelloworange, elevated, indurated, and nonulcerated xanthomatous eyelid lesions,
typically extending into the anterior orbital fat, and sometimes involving the
extraocular muscles and the lacrimal gland. Because the eyelids remained intact
and because the process did not reach the deep orbital and perioptic connective
tissues, visual acuity was well preserved. There is cosmetic morbidity and
occasionally motility restriction with advancing involvement of the extraocular
muscles. All patients had variably severe adult-onset asthma that required
treatment with systemic prednisone and inhalants. No evidence of ErdheimChester disease was found in any patient, but the appearance in one patient, after
25 years of follow-up, of a separate subcutaneous necrobiotic
xanthogranulomatous lesion in the mandibular region with an associated
paraproteinemia, suggests that at least some of our cases might be a mild form of
necrobiotic xanthogranuloma. For this reason, we would suggest repeated periodic
serum protein immunoelectrophoretic studies as well as evaluation for lymphoma.
Therapy probably should consist of low doses of periorbital radiotherapy coupled
with high doses of corticosteroids. Should this not be successful, then systemic
administration of corticosteroids with chemotherapeutic agents might be
efficacious, as in necrobiotic xanthogranuloma.
We report the 32nd case of a multivisceral form of Erdheim-Chester disease. This
exceptional pathology is a diffuse xanthogranulomatosis which comes within the
scope of histiocytosis. The originality of this case is due to cerebral localizations
and to the fact that some symptoms have been observed for a long time: diabetes
insipidus, exophthalmos and stubborn intertrigo.
12/2/2015
8012336
8320335
8140711
1480576
1992
Oct
2: Radiol Med
(Torino);84(4):4
71-5
["Erdheim-Chester"
disease.
Description of a
case]
1992
Sep
3: J Prosthet
Dent;68(3):399401
Implant
rehabilitation in
Erdheim-Chester
disease: a clinical
report.
1992
4: Skeletal
Radiol;21(1):647
1991
Jun
1: Arch
Ophthalmol;109
(6):850-4
1991
Jun
2: Arch Pathol
Lab
Med;115(6):619
-23
Pg 135 of 139
Serafini F,
Carcello A,
Viglietta G,
Poggi C,
Mandreoli M
Brahim JS,
Guckes AD,
Rudy SF
Servizio di Radiologia,
Ospedale Policlinico S.
Orsola-Malpighi, USL
28, Bologna.
Case report 710:
Symmetrical
eosinophilic
granuloma of the
lower extremities
(proven) and
Erdheim-Chester
disease (probable).
Orbital and eyelid
involvement with
Erdheim-Chester
disease. A report of
two cases.
Strouse PJ, Ellis
BI, Shifrin LZ,
Shah AR
Department of
Henry Ford Hospital,
Detroit, Michigan.
Shields JA,
Karcioglu ZA,
Shields CL,
Eagle RC, Wong
S
Ocular Oncology
Service, Wills Eye
Hospital, Philadelphia,
PA 19107.
Erdheim-Chester
disease. Case
report with autopsy
findings.
Fink MG,
Levinson DJ,
Brown NL,
Sreekanth S,
Sobel GW
Department of
Pathology, Humana
Hospital-Michael Reese,
Chicago, Ill. 60616.
Clinical Investigations
and Patient Care
Branch, National
National Institute of
Dental Research,
Bethesda, Md.
1455035
Successful osseointegration of endosseous titanium implants is thought to be
dependent upon close apposition of bone to the implant surface. The integration of
implants in this patient was achieved despite the lipid-laden histiocytic infiltration of
the bone marrow. Presumably, enough unaffected stromal cells were present to
allow sufficient bone formation for osseointegration of the implant fixtures. This
result invites speculation regarding both the mechanism of osseointegration and
the minimum surface area of bone-implant interface necessary for achieving and
maintaining osseointegration of titanium implants. This patient is periodically
examined to determine if the loaded fixtures will remain clinically immobile for a
prolonged period.
We present a case of symmetrical EG of the lower extremities in a 36-year-old
man. Several entities are considered in the differential diagnosis. However, many
of the features bear a striking resemblance to ECD, which probably coexists in this
case. A link between the two entities, EG and ECD, has been suggested by others.
Future experience may confirm this hypothesis.
1432751
Erdheim-Chester disease is an idiopathic condition characterized by infiltration of
the heart, lungs, retroperitoneum, bones, and other tissues by a fibrosing
xanthogranulomatous process composed of xanthomatous histiocytes and Touton
giant cells. This condition is often fatal, with death due to cardiomyopathy, severe
lung disease, or chronic renal failure. Ocular findings with this potentially fatal
disease are rare. We report the clinical and histopathologic findings in two cases of
bilateral xanthelasmas and bilateral orbital infiltrates in association with ErdheimChester disease. The first patient was a 38-year-old man with cardiovascular and
renal disease and severe retroperitoneal fibrosis. The massive orbital infiltration
produced bilateral blindness. The second patient was a 77-year-old man with
severe cardiovascular disease and retroperitoneal fibrosis. The diagnosis was
confirmed in both patients with retroperitoneal and orbital biopsies. Both patients
had the unusual occurrence of bilateral xanthelasmas with bilateral, diffuse orbital
masses, eye findings that should alert the clinician to the possibility of this serious
systemic disease.
Erdheim-Chester disease is a rare pathologic entity characterized by symmetrical
radiodensities in the metaphyseal and the diaphyseal portions of the long bones.
Fibrosis, osteoblastic cortical bone deposition, and fibroxanthomatous granulomas
with lipid-laden macrophages and multinucleated giant cells, which have a
particular tropism for connective and adipose tissues, are the pathologic hallmarks.
To our knowledge, 27 cases have been reported in the literature since the entity
was first described in 1930. Protean clinical features range from a focal and
asymptomatic process to a multisystemic infiltrative disease. We describe the
clinical course of a new case and review the extensive pathologic findings at
autopsy, including those demonstrated by light and electron microscopy and
cytochemical and immunocytochemical studies.
2043074
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1546341
2039348
1991
Jun
3:
Radiologe;31(6)
:307-9
[Cerebral
manifestations of
Erdheim-Chester
disease]
Kujat C, Junk B,
Hermes M,
Martin J, Dewes
W
1991
Jun
4:
Radiologe;31(6)
:297-306
[Erdheim-Chester
disease]
Kujat C, Martin
J, Püschel W
1991
Apr
5: Presse
Med;20(13):607
Sellami M,
Sellami F
1991
6: Am J Pediatr
Hematol
Oncol;13(1):426
[A rare cause of
exophthalmos,
Erdheim-Chester
disease]
A
xanthogranulomato
us histiocytosis in a
child presenting
with short stature.
Globerman H,
Burstein S,
Girardina PJ,
Winchester P,
Frankel S
Department of
Pediatrics, New York
Hospital-Cornell Medical
Center, New York.
1990
Sep
1: Oral Surg
Oral Med Oral
Pathol;70(3):29
4-6
Premature alveolar
bone loss in
Erdheim-Chester
disease.
Valdez IH, Katz
RW, Travis WD
National Institute of
Dental Research,
National Institutes of
Health, Bethesda, Md.
1990
2: Eur J Nucl
Med;16(1):5560
Scintigraphic
findings and follow
up in ErdheimChester disease.
Sandrock D,
Merino MJ,
Scheffknecht
BH, Neumann
RD
Medicine, Warren G.
Magnuson Clinical
Center, National
Bethesda, MD 20892.
1990
3: AJNR Am J
Neuroradiol;11(
6):1267-70
MR of diabetes
insipidus in a
patient with
Erdheim-Chester
disease: case
report.
Tien R,
Kucharczyk J,
Newton TH,
Citron JT, Duffy
TJ
Neuroradiology Section,
University of California,
San Francisco 94143.
Pg 136 of 139
Funktionsbereich
Kernspintomographie,
Universität des
Saarlandes,
Homburg/Saar.
Neuroradiologisches
Institut, Universität des
Saarlandes,
Homburg/Saar.
Cerebral manifestations of Erdheim-Chester disease are variable, giving a picture
like that of multiple sclerosis. White matter lesions are located mainly in cerebellum
and pons and lipid granulomas in the meninges. An asymptomatic lesion in the
choroid plexus, with prolonged uptake of Gd-DTPA is described for the first time.
1882073
Erdheim-Chester disease (ECD) is characterized by lipid granuloma in the long
tubular bones, which leads to pathognomonic symmetrical sclerosis of their
metaphyses and diaphyses. Lipid granuloma may also be present in numerous
other mesenchymal tissues, especially lung, orbit and retroperitoneal space. The
clinical course and prognosis of the disease depend on these lesions. Reviewing
30 cases published since 1931 and a personal case with S100 positive cells, we
present the typical radiological and clinical findings. There is striking resemblance
to chronic disseminated histiocytosis X.
1882072
1827907
We evaluated a 7-year-old boy presenting with a neck mass that was diagnosed as
juvenile xanthogranuloma on excisional biopsy. Despite this diagnosis, an
exhaustive evaluation was undertaken because of marked short stature.
Examination revealed growth hormone deficiency and diabetes insipidus, as well
as widespread lesions in the head, mediastinum, retroperitoneum, skeleton, and
elsewhere. Biopsies of the lesions in the mediastinum and right tibia suggested a
diagnosis of xanthoma disseminatum with bony involvement, suggesting the
Erdheim-Chester variant of xanthogranulomatous histiocytosis, previously reported
only in adults. The diagnosis is contrasted to the more common clinical entities of
juvenile xanthogranuloma and the Langerhans' cell histiocytoses. This case
illustrates the gravity with which otherwise unexplained short stature should be
considered.
Erdheim-Chester disease is a rare histiocytosis also known as lipoid
granulomatosis. Oral findings have not been reported previously to our knowledge.
This case report documents evidence of oral sequelae of Erdheim-Chester
disease. A patient whose course was followed for 10 years at the National
Institutes of Health had premature alveolar bone resorption. He underwent fullmouth extraction at age 29 years because of severe periodontitis. Histopathologic
evidence of Erdheim-Chester disease was demonstrated in the periodontal soft
tissues. In the ensuring years, accelerated resorption of the residual ridges
precluded the use of conventional dentures. We recommend early preventive
dental management for patients with Erdheim-Chester disease.
Two cases of Erdheim-Chester disease are presented: a 26-year-old white male
patient with lipoidgranulomatosis of numerous long and flat bones and infiltration of
pericardium, pleura, liver, spleen, thyroid, skin, conjunctiva, gingiva, and false vocal
cord; and a 54-year-old white male with involvement of bones, orbits, brain,
pericardium, and retroperitoneum. The scintigraphic findings in this disease are
described, and a comprehensive review of the 27 previously reported cases is
given including an assessment of the value of scintigraphy for diagnosis and follow
up of this rare disease.
1903027
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2124077
12/2/2015
1990
4: Trans Pa
Acad
Ophthalmol
Otolaryngol;42:
931-7
Clinical spectrum of
histiocytic tumors of
the orbit.
Shields JA,
Shields CL
Ocular Oncology
Service, Wills Eye
Hospital, Thomas
Jefferson University,
Philadelphia,
Pennsylvania 19107.
1989
Sep
1:
Radiology;172(3
):791-2
persistent
enhancement with
Gd-DTPA on MR
images.
Tien RD, Brasch
RC, Jackson DE,
Dillon WP
Department of
California San Francisco
94143.
1989
Mar
2: J Bone Joint
Surg
Am;71(3):45664
Erdheim-Chester
disease. A report of
three cases.
Lantz B, Lange
TA, Heiner J,
Herring GF
1989
3: Ann Dermatol
Venereol;116(1
1):837-40
[Erdheim-Chester
disease: a form of
xanthogranulomato
sis]
1988
Oct
1: Clin Nucl
Med;13(10):736
-41
Lipid
granulomatosis:
Erdheim-Chester
disease.
Wechsler J,
Michaud V,
Bagot M,
Guillaume JC,
Fraitag S,
Brugières P,
Brun B, Revuz J
Molnar CP,
Gottschalk R,
Gallagher B
Department of
University of Arkansas
for Medical Sciences,
Little Rock 72205.
Service d'Anatomie
pathologique, Hôpital
Henri-Mondor, Créteil.
1988
2: Czech
Med;11(1):5764
A
xanthogranulomato
us process
encircling large
blood vessels
(Erdheim-Chester
disease?).
Pg 137 of 139
Mergancová J,
Kubes L, Elleder
M
Department of
Radiological Sciences
and Diagnostic Imaging,
Foothills Hospital,
Calgary, Alberta,
Canada.
School of Medicine,
Charles University,
Hradec Králové.
Histiocytic tumors of the orbit comprise an unusual group of lesions characterized
by the infiltration of the orbital tissues by xanthomatous cells. Recently, there have
been a number of new observations regarding the various histiocytic tumors that
can affect the orbit. The condition previously referred to as histiocytosis X is
believed to represent a proliferation of Langerhans cells and the term Langerhans
cell histiocytosis is often used instead of histiocytosis X. Juvenile xanthogranuloma
has been demonstrated to affect the orbit without involving the skin or the iris. The
Erdheim-Chester disease is a condition of adults characterized by infiltration of
bone, retroperitoneum, heart, lungs and other tissues by xanthoma cells. This
condition has recently been recognized to produce a classic ophthalmological
picture of bilateral xanthelasmas and bilateral proptosis. The authors review their
personal experience with several patients with histiocytic tumors of the orbit and
stress the clinical spectrum of these conditions.
A case of Erdheim-Chester disease with intracerebral masses containing
characteristic lipid-laden histiocytes is presented. These unusual lesions remained
enhanced on magnetic resonance images obtained 8 days after injection of
gadolinium diethylenetriaminepentaacetic acid (DTPA) dimeglumine. Chemical
analysis of a biopsy specimen revealed a high concentration of gadolinium.
Findings suggest that the Gd-DTPA complex or possibly a gadolinium-containing
metabolite may be retained for extended periods in this unusual type of histiocytic
lesion.
2084989
2772189
2925725
2619181
Twenty-six cases of lipid (cholesterol) granulomatosis, Erdheim-Chester Disease
(ECD), have been described in the literature to date. A new case of ECD in a 33year-old man with an unusual presentation of exudative ascites following a four
year history of abdominal pain is reported. The radiographic and bone scan
findings in this disease have been established and Ga-67 scan findings are
reported. The Tc-99m sulphur colloid bone marrow and In-111 chloride scan
findings are presented.
The case of a strange type of generalized xanthogranulomatosis, ending by a lethal
kidney complication, is described in a woman aged 68. The clinical symptoms of
the patient were not characteristic and did not lead to the actual diagnosis. The
process was located along the basal brain arteries, it adhered to the adventitia of
the descending thoracic aorta and of the coronary arteries. An identical
xanthogranulomatous infiltrate was found in the peripelvic adipose tissue of both
kidneys, where it led to stenosis of the proximal ends of both ureters; to a lesser
extent such infiltrates appeared also in the periportal areas of the liver and in the
bone marrow. Histological findings grant the possibility of the Erdheim-Chester
disease. Differential diagnosis is subjected to discussion.
12/2/2015
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3133188
1988
Sep
3: Arthritis
Rheum;31(9):12
15-6
1988
Apr
4: AJR Am J
Roentgenol;150
(4):869-71
1988
Oct
5: Am J Clin
Pathol;90(4):37
7-84
Pg 138 of 139
Erdheim-Chester
disease associated
with hydrocalycosis
and arthropathy.
Langerhans cell
histiocytosis with
the radiographic
findings of
Erdheim-Chester
disease.
Xanthoma of bone.
Brown R, van
den Berg R,
Hurst NP, Allen
PW
Waite RJ,
Doherty PW,
Liepman M,
Woda B
Bertoni F, Unni
KK, McLeod RA,
Sim FH
3422024
Department of
Massachusetts Medical
Center, Worcester
01605.
Department of
Mayo Clinic, Rochester,
Minnesota 55905.
3258103
The authors report on 21 cases of "primary" xanthoma of bone. Twenty of the
patients were older than 20 years old. The male-female ratio was 2:1. The
presenting symptom was pain in 13 patients and neurologic symptoms in 2; in 6
patients, the lesion was an incidental finding. All but one of the lesions in this series
were solitary, and the flat bones (pelvis, rib, skull) were the most frequently
involved sites. Radiographically, a well-defined, sometimes expansile lytic lesion,
with either a small area of surrounding reactive bone or a distinct sclerotic margin,
was seen. Microscopically, foam cells, giant cells, cholesterol clefts, and fibrosis
were present in varying degrees. In none of these cases was there an identifiable
underlying lesion. The differential diagnosis includes Erdheim-Chester disease (a
multisystemic granulomatosis) and bone involvement in sinus histiocytosis with
massive lymphadenopathy (Rosai-Dorfman disease). More important is the
differential diagnosis with metastatic clear cell carcinoma. Xanthoma of bone is a
benign lesion, and complete or even partial removal is effective. Xanthomas may
represent a "burnt-out" benign condition such as fibrous dysplasia or histiocytosis
X.
12/2/2015
3140652
2006
Haematologica
Pg 139 of 139
High-dose
chemotherapy
followed by
autologous
hematopoietic
stem cell
transplantation
for adult
histiocytic
disorders with
central nervous
system
involvement
Nathalie Gaspar
Pascaline
Boudou
Julien Haroche
Bertrand
Wechsler
Eric Van Den
Neste
Khe HoangXuan
Zahir Amoura
Remy Guillevin
Julien
Savatovski
Nabih Azar
Jean-Charles
Piette
Véronique
Leblond
From the Service
d’hématologie
clinique, Hôpital PitiéSalpétrière,
Paris, France (NG, PB,,
NA, VL);
Interne,
Hôpital Pitié-Salpétrière
hospital,
Paris, France (JH, BW,
ZA, J-CP);
Service d’hématologie,
Cliniques
Universitaires de Saint
Luc,
Brussel, Belgium
(EVDN);
Service de Neurologie,
Hôpital
Pitié-Salpétrière
hospital, Paris,
France (KH-X); Service
de
Neuroradiologie, Hôpital
Pitié-Salpétrière
hospital,
Paris, France (RG, JS).
We postulated that high-dose chemotherapy (HDC) followed by peripheral
autologous
hematopoietic stem cell transplantation might help to control refractory central
nervous
system (CNS) histiocytic disorders. Six patients with histiocytic CNS involvement
were treated in this way. Two patients achieved non-active disease status,
although one
relapsed at 84 months. Two patients had regressive disease, one of whom
progressed
at 21 months. One patient had progressive disease at 14 months. One patient had
extra-CNS progression but CNS regression. After a median follow-up of 22.4
months,
only one of the six patients still has non-active disease. Treatment was effective on
craniofacial and space-occupying brainstem lesions, and was ineffective on
neurodegenerative
lesions.
12/2/2015
n/a

Abstracts - Erdheim-Chester Disease Global Alliance

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